Book-Biology-Quarter-4 B v41 Tb7 s1

EHS BIOLOGY - QUARTER
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Printed: July 29, 2014
iii
Contents www.ck12.org
Contents
1 Cellular Reproduction 1
1.1 Cell Cycle . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
1.2 Mitosis and Cytokinesis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6
1.3 Mitosis vs. Meiosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
1.4 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
2 Heredity and Genetics 15

2.1 Mendel’s Laws and Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16
2.2 Mendel’s Pea Plants . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
2.3 Modern Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23
2.4 Population Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27
2.5 Punnett Squares . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30
2.6 Mendelian Inheritance in Humans . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
2.7 Pedigree Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40
2.8 Genetic Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43
2.9 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47
3 What is DNA? 48
3.1 DNA, the Genetic Material . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
3.2 RNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53
3.3 Transcription of DNA to RNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 56
3.4 Translation of RNA to Protein . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59
3.5 Genetic Code . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
3.6 Gene Expression . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67
3.7 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 70
4 Genetic Alteration on Living Things 71

4.1 Human Genome Project . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72
4.2 Recombinant DNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 75
4.3 Gene Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 78
4.4 Genetic Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81
4.5 Genetic Linkage . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 84
4.6 Mutation Effects . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
4.7 Mutation Causes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
4.8 Eukaryotic Gene Regulation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 94
4.9 Carcinogens and Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98
4.10 Cancer . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 102
4.11 Ethical, Legal, and Social Issues of Biotechnology . . . . . . . . . . . . . . . . . . . . . . . . . 107
4.12 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109
iv
www.ck12.org Chapter 1. Cellular Reproduction
C HAPTER
1 Cellular Reproduction
Chapter Outline
1.1 C ELL C YCLE
1.2 M ITOSIS AND C YTOKINESIS
1.3 M ITOSIS VS . M EIOSIS
1.4 R EFERENCES
1
1.1. Cell Cycle www.ck12.org
1.1 Cell Cycle
• Define the cell cycle.

• List, in order, the phases of the cell cycle.
• Summarize the phases of the eukaryotic cell cycle.
• Explain control of the cell cycle.
• Define cancer.
What is a cell’s life like?

The eukaryotic cell spends most of its "life" in interphase of the cell cycle, which can be subdivided into the three
phases, G1, S and G2. During interphase, the cell does what it is supposed to do. Though cells have many common
functions, such as DNA replication, they also have certain specific functions. That is, during the life of a heart cell,
the cell would obviously perform certain different activities than a kidney cell or a liver cell.
The Cell Cycle
Cell division is just one of several stages that a cell goes through during its lifetime. The cell cycle is a repeating
series of events that include growth, DNA synthesis, and cell division. The cell cycle in prokaryotes is quite simple:
the cell grows, its DNA replicates, and the cell divides. In eukaryotes, the cell cycle is more complicated.
The Eukaryotic Cell Cycle
The diagram in Figure 1.1 represents the cell cycle of a eukaryotic cell. As you can see, the eukaryotic cell cycle
has several phases. The mitotic phase (M) actually includes both mitosis and cytokinesis. This is when the nucleus
2
and then the cytoplasm divide. The other three phases (G1, S, and G2) are generally grouped together as interphase.
During interphase, the cell grows, performs routine life processes, and prepares to divide. These phases are discussed
below. You can watch a eukaryotic cell going through these phases of the cell cycle at the following link: http://w
ww.cellsalive.com/cell_cycle.htm .
FIGURE 1.1
Eukaryotic Cell Cycle. This diagram rep-
resents the cell cycle in eukaryotes. The
First Gap, Synthesis, and Second Gap
phases make up interphase (I). The M
(mitotic) phase includes mitosis and cy-
tokinesis. After the M phase, two cells
result.
Interphase
Interphase of the eukaryotic cell cycle can be subdivided into the following three phases, which are represented in
Figure 1.1:
• Growth Phase 1 (G1): during this phase, the cell grows rapidly, while performing routine metabolic pro-
cesses. It also makes proteins needed for DNA replication and copies some of its organelles in preparation for
cell division. A cell typically spends most of its life in this phase. This phase is sometimes referred to as Gap
1.
• Synthesis Phase (S): during this phase, the cell’s DNA is copied in the process of DNA replication.
• Growth Phase 2 (G2): during this phase, the cell makes final preparations to divide. For example, it makes
additional proteins and organelles. This phase is sometimes referred to as Gap 2.
Control of the Cell Cycle
If the cell cycle occurred without regulation, cells might go from one phase to the next before they were ready.
What controls the cell cycle? How does the cell know when to grow, synthesize DNA, and divide? The cell cycle is
controlled mainly by regulatory proteins. These proteins control the cycle by signaling the cell to either start or delay
the next phase of the cycle. They ensure that the cell completes the previous phase before moving on. Regulatory
proteins control the cell cycle at key checkpoints, which are shown in Figure 1.2. There are a number of main
checkpoints.
• The G1 checkpoint, just before entry into S phase, makes the key decision of whether the cell should divide.
3
1.1. Cell Cycle www.ck12.org
• The S checkpoint determines if the DNA has been replicated properly.

• The mitotic spindle checkpoint occurs at the point in metaphase where all the chromosomes should have
aligned at the mitotic plate.
FIGURE 1.2
Checkpoints in the eukaryotic cell cycle
ensure that the cell is ready to proceed
before it moves on to the next phase of
the cycle.
Cancer and the Cell Cycle
Cancer is a disease that occurs when the cell cycle is no longer regulated. This may happen because a cell’s DNA
becomes damaged. Damage can occur due to exposure to hazards such as radiation or toxic chemicals. Cancerous
cells generally divide much faster than normal cells. They may form a mass of abnormal cells called a tumor (see
Figure 1.3). The rapidly dividing cells take up nutrients and space that normal cells need. This can damage tissues
and organs and eventually lead to death.
Cancer is discussed in the video at http://www.youtube.com/watch?v=RZhL7LDPk8w .
MEDIA
Click image to the left for more content.
Summary
• The cell cycle is a repeating series of events that cells go through. It includes growth, DNA synthesis, and cell
division. In eukaryotic cells, there are two growth phases, and cell division includes mitosis.
• The cell cycle is controlled by regulatory proteins at three key checkpoints in the cycle. The proteins signal
the cell to either start or delay the next phase of the cycle.
• Cancer is a disease that occurs when the cell cycle is no longer regulated. Cancer cells grow rapidly and may
form a mass of abnormal cells called a tumor.
4
FIGURE 1.3
These cells are cancer cells, growing out
of control and forming a tumor.
Practice
Use this resource to answer the questions that follow.
• http://www.hippocampus.org/Biology → Biology for AP* → Search: The Cell Cycle
1. What is interphase?
2. What occurs during the S-phase?
3. What is G0 ?
4. How long can nerve cells and liver cells remain in G0 ?
5. Describe the outcomes of density-dependent inhibition.
6. What is a growth factor? Give an example.
Review
1. Identify the phases of the eukaryotic cell cycle.

2. What happens during interphase?
3. Define cancer.
4. Cells go through a series of events that include growth, DNA synthesis, and cell division. Why are these events
best represented by a cycle diagram?
5. Explain how the cell cycle is regulated.
6. Why is DNA replication essential to the cell cycle?
5
1.2. Mitosis and Cytokinesis www.ck12.org
1.2 Mitosis and Cytokinesis
• Explain the importance of mitosis.

• Explain chromosome structure.
• Define sister chromatids.
• List the phases of mitosis.
• Summarize the phases of mitosis.
How is your DNA organized?

Your DNA is organized into chromosomes, the pink structures pictured above. Your DNA doesn’t always look so
pretty, though. It only winds tightly into chromosomes when the cell is getting ready to divide. If your DNA wasn’t
organized into chromosomes, your DNA would look like a mass of strings and would be difficult to divide up!
Mitosis and Chromosomes
The genetic information of the cell, or DNA, is stored in the nucleus. During mitosis, two nuclei (plural for nucleus)
must form, so that one nucleus can be in each of the new cells after the cell divides. In order to create two genetically
identical nuclei, DNA inside of the nucleus must be copied or replicated. This occurs during the S phase of the cell
cycle. During mitosis, the copied DNA is divided into two complete sets, so that after cytokinesis, each cell has a
complete set of genetic instructions.
Chromosomes
To begin mitosis, the DNA in the nucleus wraps around proteins to form chromosomes. Each organism has a unique
number of chromosomes. In human cells, our DNA is divided up into 23 pairs of chromosomes. Replicated DNA
forms a chromosome made from two identical sister chromatids, forming an "X" shaped molecule ( Figure 1.4).
6
The two chromatids are held together on the chromosome by the centromere. The centromere is also where spindle
fiber microtubules attach during mitosis. The spindles separate sister chromatids from each other.
FIGURE 1.4
The DNA double helix wraps around pro-
teins (2) and tightly coils a number of
times to form a chromosome (5). This
figure shows the complexity of the coiling
process. The red dot shows the location
of the centromere, which holds the sis-
ter chromatids together and is where the
spindle microtubules attach during mitosis
and meiosis. Notice that a chromosome
resembles an "X."
Four Phases of Mitosis
During mitosis, the two sister chromatids must be divided. This is a precise process that has four individual phases
to it. After the sister chromatids separate, each separate chromatid is now known as a chromosome. Each resulting
chromosome is made of DNA from just one chromatid. So: each chromosome after this separation is made of "1/2
of the X." Through this process, each daughter cell receives one copy of each chromosome. The four phases of
mitosis are prophase, metaphase, anaphase and telophase ( Figure 1.5).
1. Prophase: The chromosomes "condense," or become so tightly wound that you can see them under a micro-
scope. The membrane around the nucleus, called the nuclear envelope, disappears. Spindles also form and
attach to chromosomes to help them move.
2. Metaphase: The chromosomes line up in the center, or the equator, of the cell. The chromosomes line up in
a row, one on top of the next.
3. Anaphase: The two sister chromatids of each chromosome separate as the spindles pull the chromatids apart,
resulting in two sets of identical chromosomes.
4. Telophase: The spindle dissolves and nuclear envelopes form around the chromosomes in both cells.
After telophase, each new nucleus contains the exact same number and type of chromosomes as the original cell.
The cell is now ready for cytokinesis, which literally means "cell movement." During cytokinesis, the cytoplasm
divides and the parent cell separates, producing two genetically identical cells, each with its own nucleus. A new
cell membrane forms and in plant cells, a cell wall forms as well. Below is a representation of dividing plant cells (
Figure 1.6).
Vocabulary
• anaphase: Third phase of mitosis in which sister chromatids separate and move to opposite sides of the cell.
• centromere: Region of a chromosome where sister chromatids are joined together.
• chromosome: Structure made of DNA and proteins that contains the genetic material of a cell.
• cytokinesis: Division of the cytoplasm.
• metaphase: Second phase of mitosis in which the chromosomes are aligned in the center of the cell.
• mitosis: Division of the nucleus.
7
1.2. Mitosis and Cytokinesis www.ck12.org
FIGURE 1.5
An overview of the cell cycle and mito-
sis: during prophase the chromosomes
condense, during metaphase the chromo-
somes line up, during anaphase the sister
chromatids are pulled to opposite sides of
the cell, and during telophase the nuclear
envelope forms.
FIGURE 1.6
This is a representation of dividing plant
cells. Cell division in plant cells differs
slightly from animal cells as a cell wall
must form. Note that most of the cells are
in interphase. Can you find examples of
the different stages of mitosis?
• nucleus: Eukaryotic cell structure that contains the genetic material, DNA.
• prophase: Initial phase of mitosis in which chromosomes condense, the nuclear envelope dissolves and the
spindle begins to form.
• sister chromatids: Two identical copies of a chromosome.
• spindle: Structure that helps separate the sister chromatids during mitosis; also separates homologous chro-
mosomes during meiosis.
• telophase: Final phase of mitosis in which a nuclear envelop forms around each of the two sets of chromo-
somes.
Summary
• The DNA in the nucleus wraps around proteins to form chromosomes.

• During mitosis, the newly duplicated chromosomes are divided into two daughter nuclei.
8
• Mitosis occurs in four phases, called prophase, metaphase, anaphase, and telophase.
Practice
Use the resource below to answer the questions that follow.
• Mitosis by NDSU VCell Productions at http://www.youtube.com/watch?v=C6hn3sA0ip0 (6:10)
MEDIA
1. When does the "classic" chromosome structure of DNA appear during mitosis?
2. What problems do you think might arise if the chromosomes did not align during metaphase?
3. When do the nuclear envelopes reform? What problems might arise if a cell started forming the nuclear
envelopes earlier?
4. In what stage do cells spend most of their "life"?
5. How long does mitosis take in the typical eukaryotic cell?
Review
1. What are chromosomes?

2. What are the four phases of mitosis, in the correct order?
3. In what phase of mitosis are chromosomes moving toward opposite sides of the cell?
4. Compare the two nuclei that form as a result of mitosis?
5. What is cytokinesis, and when does it occur?
9
1.3. Mitosis vs. Meiosis www.ck12.org
1.3 Mitosis vs. Meiosis
• Distinguish between mitosis and meiosis.

• Summarize the necessity for mitosis and meiosis.
Mitosis or Meiosis?
This represents a tiny embryo just beginning to form. Once an egg is fertilized, the resulting single cell must divide
many, many times to develop a fetus. Both mitosis and meiosis involve cell division; is this type of cell division an
example of mitosis or meiosis? The answer is mitosis. With each division you are making a genetically exact copy
of the parent cell, which only happens through mitosis.
Mitosis vs. Meiosis
Mitosis, meiosis, and sexual reproduction are discussed at http://www.youtube.com/watch?v=kaSIjIzAtYA (18:23).
MEDIA
Both mitosis and meiosis result in eukaryotic cells dividing. So what is the difference between mitosis and meiosis?
The primary difference is the differing goals of each process. The goal of mitosis is to produce two daughter cells
that are genetically identical to the parent cell, meaning the new cells have exactly the same DNA as the parent cell.
10
Mitosis happens when you want to grow, for example. You want all your new cells to have the same DNA as the
previous cells. The goal of meiosis, however, is to produce sperm or eggs, also known as gametes. The resulting
gametes are not genetically identical to the parent cell. Gametes are haploid cells, with only half the DNA present
in the diploid parent cell. This is necessary so that when a sperm and an egg combine at fertilization, the resulting
zygote has the correct amount of DNA—not twice as much as the parents. The zygote then begins to divide through
mitosis.
Pictured below is a comparison between binary fission ( Figure 1.7), which is cell division of prokaryotic organisms,
mitosis, and meiosis. Mitosis and meiosis are also compared in the table that follows ( Table 1.1).
FIGURE 1.7
A comparison between binary fission, mi-
tosis, and meiosis.
TABLE 1.1: Mitosis vs. Meiosis: A Comparison

Mitosis Meiosis
Purpose To produce new cells To produce gametes
Number of Cells Produced 2 4
Rounds of Cell Division 1 2
Haploid or Diploid Diploid Haploid
Daughter cells identical to parent Yes No
cells?
Daughter cells identical to each Yes No
other?
Vocabulary
• binary fission: Reproduction through growth and division of the cell, as in bacteria.
• daughter cells: Cells that result from division of the parent cell during mitosis or meiosis.
11
1.3. Mitosis vs. Meiosis www.ck12.org
• diploid: Having two sets of chromosomes; 2n.

• fertilization: Union of a sperm and egg.
• gamete: Sex cell, such as sperm or egg.
• haploid: Having one set of chromosomes, as in sperm and egg; n.
• meiosis: Process in cell division that reduces the chromosome number in order to make gametes.
• mitosis: Process in cell division during which the nucleus divides so that a new cell is produced that is identical
to the parent cell.
• zygote: Cell that forms when a sperm and egg unite; the first cell of a new organism.
Summary
• The goal of mitosis is to produce a new cell that is identical to the parent cell.
• The goal of meiosis is to produce gametes that have half the DNA of the parent cell.
Practice
Use the resources below to answer the questions that follow.
Practice I
• Mitosis and Meiosis Simulation at http://www.youtube.com/watch?v=zGVBAHAsjJM (11:53)
MEDIA
1. What are homologous chromosomes?

2. How do the location of specific genes compare between homologous chromosomes?
3. What is the outcome from mitosis?
4. What is a tetrad? Why are they an important feature of meiosis?
5. How does meiosis differ between females and males?
Practice II
• How Cells Divide at http://www.pbs.org/wgbh/nova/body/how-cells-divide.html
1. How many daughter cells arise from mitosis? How many daughter cells are produced in meiosis?
2. How does the attachment of spindle fibers differ between mitosis and meiosis I?
3. Is anaphase I or anaphase II in meiosis more analogous to anaphase in mitosis? Explain your reasoning.
4. How many steps are there in mitosis? How many steps are there in meiosis?
5. How does interphase I of meiosis differ from interphase II of meiosis?
12
Review
1. What is the goal of mitosis? Of meiosis?

2. How many cells are created from cytokinesis following mitosis? Following meiosis?
3. Which process, mitosis to meiosis, creates genetically identical cells?
4. "Gametes are haploid cells." What does this sentence mean?
13
1.4. References www.ck12.org
1.4 References
1. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Eukaryotic Cell Cycle. CC BY-NC 3.0
2. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Checkpoints control the cell cycle. CC BY-NC
3.0
3. Ed Uthman. Cancer cell tumor. Public Domain
4. Magnus Manske. How DNA coils to make a chromosome. Public Domain
5. Zachary Wilson and Mariana Ruiz Villarreal (LadyofHats), using images by LadyofHats (http://commons.wikimedia.org/w
An overview of the cell cycle and mitosis. CC BY-NC 3.0
6. Edmund Beecher Wilson. Drawing of dividing plant cells. Public Domain
7. Zachary Wilson. A comparison between binary fission, mitosis, and meiosis. CC BY-NC 3.0
14
www.ck12.org Chapter 2. Heredity and Genetics
C HAPTER
2 Heredity and Genetics
Chapter Outline
2.1 M ENDEL’ S L AWS AND G ENETICS
2.2 M ENDEL’ S P EA P LANTS
2.3 M ODERN G ENETICS
2.4 P OPULATION G ENETICS
2.5 P UNNETT S QUARES
2.6 M ENDELIAN I NHERITANCE IN H UMANS
2.7 P EDIGREE A NALYSIS
2.8 G ENETIC D ISORDERS
2.9 R EFERENCES
15
2.1. Mendel’s Laws and Genetics www.ck12.org
2.1 Mendel’s Laws and Genetics
• Distinguish between dominant and recessive traits.

• Explain the law of segregation.
What does it mean to be dominant?

The most powerful or influential individual in a group is sometimes called dominant. In genetics, a dominant trait
means nearly the same thing. A dominant trait is the most influential trait and masks the other trait.
Dominance
Do you remember what happened when Mendel crossed purple flowered-plants and white flowered-plants? All the
offspring had purple flowers. There was no blending of traits in any of Mendel’s experiments. Mendel had to come
up with a theory of inheritance to explain his results. He developed a theory called the law of segregation.
The Law of Segregation
Mendel proposed that each pea plant had two hereditary factors for each trait. There were two possibilities for each
hereditary factor, such as a purple factor or white factor. One factor is dominant to the other. The other trait that is
masked is called the recessive factor, meaning that when both factors are present, only the effects of the dominant
factor are noticeable ( Figure 2.1). Although you have two hereditary factors for each trait, each parent can only
pass on one of these factors to the offspring. When the sex cells, or gametes (sperm or egg), form, the heredity
factors must separate, so there is only one factor per gamete. In other words, the factors are "segregated" in each
gamete. Mendel’s law of segregation states that the two hereditary factors separate when gametes are formed. When
fertilization occurs, the offspring receive one hereditary factor from each gamete, so the resulting offspring have two
factors.
16
FIGURE 2.1
In peas, purple flowers are dominant to white. If one of these purple
flowers is crossed with a white flower, all the offspring will have purple
flowers.
Example Cross
This law explains what Mendel had seen in the F1 generation when a tall plant was crossed with a short plant. The
two heredity factors in this case were the short and tall factors. Each individual in the F1 would have one of each
factor, and as the tall factor is dominant to the short factor (the recessive factor), all the plants appeared tall.
In describing genetic crosses, letters are used. The dominant factor is represented with a capital letter (T for tall)
while the recessive factor is represented by a lowercase letter (t). For the T and t factors, three combinations are
possible: TT, Tt, and tt. TT plants will be tall, while plants with tt will be short. Since T is dominant to t, plants that
are Tt will be tall because the dominant factor masks the recessive factor.
In this example, we are crossing a TT tall plant with a tt short plant. As each parent gives one factor to the F1
generation, all of the F1 generation will be Tt tall plants.
When the F1 generation (Tt) is allowed to self-pollinate, each parent will give one factor (T or t) to the F2 generation.
So the F2 offspring will have four possible combinations of factors: TT, Tt, tT, or tt. According to the laws of
probability, 25% of the offspring would be tt, so they would appear short. And 75% would have at least one T factor
and would be tall.
Vocabulary
• dominant: Trait will appear in the offspring if at least one of the parents contributes it.
• gamete: Sex cell; sperm or egg.
• law of segregation: States that during the production of gametes, the two hereditary factors for each trait
segregate. As a result, offspring receive one factor from each parent, resulting in two factors for each trait in
the offspring.
• recessive: Trait must be contributed by both parents in order to appear in the offspring. If only one parent
contributes the recessive trait, it will be masked by the other, dominant trait.
Summary
• One hereditary factor is dominant to the other. The dominant trait masks the recessive factor, so that when
both factors are present, only the effects of the dominant factor are noticeable.
• According to Mendel’s law of segregation, there are two hereditary factors for each trait that must segregate
during gamete (egg and sperm) production. As a result, offspring receive one factor from each parent, resulting
in two factors for each trait in the offspring.
17
2.1. Mendel’s Laws and Genetics www.ck12.org
Practice
• Mendel’s Experiment at http://www.mendel-museum.com/experiment/animation.htm
1. In Mendel’s experiments, did it matter if the dominant trait came from the seed plant or the pollen plant?
2. Yellow is a dominant trait in peas. You breed two plants with yellow peas, and some of the offspring’s peas
are green? How can this be? Explain your answer fully.
3. For some of his experiments Mendel saw a 9:3:3:1 ratio, consisting of 9 yellow/smooth, 3 yellow/wrinkled, 3
green/smooth, and 1 green/wrinkled. What did he conclude from this ratio? Explain where these ratios came
from.
Review
1. What is the difference between a dominant trait and a recessive trait?

2. Explain the law of segregation.
3. When Mendel crossed a TT tall plant with a tt short plant, what did he observe in the F1 generation? Why?
4. If PP purple plants are crossed with pp white plants, what will be the possible combinations of factors if the
F1 generation is allowed to self-pollinate?
18
2.2 Mendel’s Pea Plants
• Summarize the importance of Gregor Mendel to genetics.

• Distinguish between self-pollination and cross-pollination.
• Describe Mendel’s first genetics experiments.
Why do you look like your family?

For a long time people understood that traits are passed down through families. The rules of how this worked
were unclear, however. The work of Gregor Mendel was crucial in explaining how traits are passed down to each
generation.
Mendel’s Experiments
What does the word "inherit" mean? You may have inherited something of value from a grandparent or another
family member. To inherit is to receive something from someone who came before you. You can inherit objects,
but you can also inherit traits. For example, you can inherit a parent’s eye color, hair color, or even the shape of your
nose and ears!
Genetics is the study of inheritance. The field of genetics seeks to explain how traits are passed on from one
generation to the next.
In the late 1850s, an Austrian monk named Gregor Mendel ( Figure 2.2) performed the first genetics experiments.
To study genetics, Mendel chose to work with pea plants because they have easily identifiable traits ( Figure 2.3).
For example, pea plants are either tall or short, which is an easy trait to observe. Furthermore, pea plants grow
quickly, so he could complete many experiments in a short period of time.
Mendel also used pea plants because they can either self-pollinate or be cross-pollinated. Self-pollination means
that only one flower is involved; the flower’s own pollen lands on the female sex organs. Cross pollination is done
19
2.2. Mendel’s Pea Plants www.ck12.org
FIGURE 2.2
Gregor Mendel, the "father" of genetics.
FIGURE 2.3
Characteristics of pea plants.
by hand by moving pollen from one flower to the stigma of another. As a result, one plant’s sex cells combine with
another plant’s sex cells. This is called a "cross." These crosses produce offspring (or "children"), just like when
male and female animals mate. Since Mendel could move pollen between plants, he could carefully control and then
observe the results of crosses between two different types of plants.
He studied the inheritance patterns for many different traits in peas, including round seeds versus wrinkled seeds,
white flowers versus purple flowers, and tall plants versus short plants. Because of his work, Mendel is considered
the "Father of Genetics."
Mendel’s First Experiment
In one of Mendel’s early experiments, he crossed a short plant and a tall plant. What do you predict the offspring of
these plants were? Medium-sized plants? Most people during Mendel’s time would have said medium-sized. But
an unexpected result occurred. Mendel observed that the offspring of this cross (called the F1 generation) were all
tall plants!
Next, Mendel let the F1 generation self-pollinate. That means the tall plant offspring were crossed with each other.
He found that 75% of their offspring (the F2 generation) were tall, while 25% were short. Shortness skipped a
generation. But why? In all, Mendel studied seven characteristics, with almost 20,000 F2 plants analyzed. All of his
results were similar to the first experiment—about three out of every four plants had one trait, while just one out of
every four plants had the other.
For example, he crossed purple flowered-plants and white flowered-plants. Do you think the colors blended? No,
20
they did not. Just like the previous experiment, all offspring in this cross (the F1 generation) were one color: purple.
In the F2 generation, 75% of plants had purple flowers and 25% had white flowers ( Figure 2.4). There was no
blending of traits in any of Mendel’s experiments.
FIGURE 2.4
The results of Mendel’s experiment with
purple flowered and white flowered-plants
numerically matched the results of his
experiments with other pea plant traits.
Vocabulary
• cross-pollinate: Moving pollen from one flower to the stigma of another so that one plant’s sex cells combine
with another plant’s sex cells.
• F1 generation: Offspring of a cross.
• F2 generation: Offspring from the self-pollination of the F1 generation.
• genetics: Study of inheritance.
• inherit: To receive something from someone who came before you.
• offspring: Result of a reproductive process; children.
• self-pollinate: Fertilization that occurs when a flower’s own pollen lands on and pollinates the female sex
organs.
21
2.2. Mendel’s Pea Plants www.ck12.org
Summary
• Gregor Mendel was the father of the field of genetics, which seeks to explain how traits are passed on from
one generation to the next.
• To study genetics, Mendel chose to work with pea plants because they have easily identifiable traits.
Practice
• Pea experiment at http://www.sonic.net/~nbs/projects/anthro201/exper/
1. What is a "simple" trait?

2. What is a heterozygote? How is this different than a homozygote?
3. You breed a plant with yellow wrinkled peas with a plant with yellow smooth peas. Both individuals are
homozygous for both traits. What will the peas of the next generation look like?
4. You breed plants with the same traits as in question 3, but this time the smooth trait is heterozygous in the
second individual. What will the peas of the next generation look like?
5. You breed two green wrinkled plants. Will will the next generation look like?
Review
1. What is genetics?
2. Why did Mendel choose to study pea plants?
3. How did Mendel’s experiments disprove the idea that we are simply a "blend" of our parents’ traits?
4. What were the results Mendel consistently identified in his experiments?
22
2.3 Modern Genetics
• Define allele.
• Compare heterozygous to homozygous.
• Distinguish genotype from phenotype.
• Compare Mendel’s laws with the modern understanding of chromosomes.
Did Mendel know about DNA?

No, people did not understand that DNA is our hereditary material until long after Mendel’s time. Our modern
understanding of DNA and chromosomes helped to explain how Mendel’s rules worked.
Modern Genetics
Mendel laid the foundation for modern genetics, but there were still a lot of questions he left unanswered. What
exactly are the dominant and recessive factors that determine how all organisms look? And how do these factors
work?
Since Mendel’s time, scientists have discovered the answers to these questions. Genetic material is made out of
DNA. It is the DNA that makes up the hereditary factors that Mendel identified. By applying our modern knowledge
of DNA and chromosomes, we can explain Mendel’s findings and build on them. In this concept, we will explore
the connections between Mendel’s work and modern genetics.
Traits, Genes, and Alleles
Recall that our DNA is wound into chromosomes. Each of our chromosomes contains a long chain of DNA that
encodes hundreds, if not thousands, of genes. Each of these genes can have slightly different versions from individual
23
2.3. Modern Genetics www.ck12.org
to individual. These variants of genes are called alleles.

For example, remember that for the height gene in pea plants there are two possible factors. These factors are alleles.
There is a dominant allele for tallness (T) and a recessive allele for shortness (t).
Genotype and Phenotype
Genotype is a way to describe the combination of alleles that an individual has for a certain gene ( Table 2.1). For
each gene, an organism has two alleles, one on each chromosome of a homologous pair of chromosomes (think of it
as one allele from Mom, one allele from Dad). The genotype is represented by letter combinations, such as TT, Tt,
and tt.
When an organism has two of the same alleles for a specific gene, it is homozygous (homo- means "same") for that
gene. An organism can be either homozygous dominant (TT) or homozygous recessive (tt). If an organism has two
different alleles (Tt) for a certain gene, it is known as heterozygous (hetero- means different).
TABLE 2.1: Genotypes

Genotype Definition Example
Homozygous Two of the same allele TT or tt
Heterozygous One dominant allele and one reces- Tt
sive allele
Homozygous dominant Two dominant alleles TT
Homozygous recessive Two recessive alleles tt
Phenotype is a way to describe the traits you can see. The genotype is like a recipe for a cake, while the phenotype
is like the cake made from the recipe. The genotype expresses the phenotype. For example, the phenotypes of
Mendel’s pea plants were either tall or short, or they were purple-flowered or white-flowered.
Can organisms with different genotypes have the same phenotypes? Let’s see.
What is the phenotype of a pea plant that is homozygous dominant (TT) for the tall trait? Tall. What is the phenotype
of a pea plant that is heterozygous (Tt)? It is also tall. The answer is yes, two different genotypes can result in the
same phenotype. Remember, the recessive phenotype will be expressed only when the dominant allele is absent, or
when an individual is homozygous recessive (tt) ( Figure 2.5).
FIGURE 2.5
Different genotypes (AA, Aa, aa or TT,
Tt, tt) will lead to different phenotypes, or
different appearances of the organism.
24
Vocabulary
• allele: Variant of genes.

• chromosome: Structure composed of DNA wrapped around proteins.
• DNA (deoxyribonucleic acid): Hereditary material of a cell.
• genotype: Describes the combination of alleles that an individual has for a certain gene.
• homozygous: Having two of the same alleles for a specific gene.
• heterozygous: Having two different alleles for a specific gene.
• phenotype: Describes observable traits.
Summary
• Mendel’s hereditary "factors" are variants of genes called alleles.

• Genotype describes the combination of alleles that an individual has for a certain gene, while phenotype
describes the traits that you can see.
Practice
Practice I
• Link Between Genotype and Phenotype at http://www.sciencelearn.org.nz/Contexts/Uniquely-Me/Sci-Medi
a/Video/Researching-the-link-between-genotype-and-phenotype
1. When geneticists look at genotype, what are they really studying?

2. Why do geneticists like to turn genes off? What question(s) do they ask?
Practice II
• iPlant Genotype to Phenotype at http://www.youtube.com/watch?v=nIh0Qy_CZsU (3:49)
MEDIA
1. Do most of the complex phenotypes we observe come from a single gene?

2. What has led to the rapid analysis of DNA? Where do scientists now hope to apply these tools?
3. What are some of the phenotypic plant traits that scientists are investigating? Why do you think these traits
were chosen?
Review
1. What is an allele?
25
2.3. Modern Genetics www.ck12.org
2. What is the type of allele that only affects the phenotype in the homozygous condition?
3. If two individuals have a certain phenotype, does that mean they must have the same genotype?
4. A tall, green plant is homozygous for each trait. If T is the tall allele, and G is the green allele, what is the
genotype and the phenotype of this plant?
26
2.4 Population Genetics
• Distinguish between microevolution and macroevolution.

• Define gene pool.
• Explain how to calculate allele frequencies.
Jeans vs. Genes. What’s the difference?

Plenty. One you have for life, the other just lasts a few years. One is the basis for the passing of traits from one
generation to the next. Some jeans you change frequently. But what happens when you change a gene’s frequency?
Essentially, evolution is a change in gene frequencies within a population.
Genes in Populations
Darwin knew that heritable variations are needed for evolution to occur. However, he knew nothing about Mendel’s
laws of genetics. Mendel’s laws were rediscovered in the early 1900s. Only then could scientists fully understand
the process of evolution. We now know that variations of traits are heritable. These variations are determined by
different alleles. We also know that evolution is due to a change in alleles over time. How long a time? That depends
on the scale of evolution.
• Microevolution occurs over a relatively short period of time within a population or species. The Grants
observed this level of evolution in Darwin’s finches (see the "Biogeography" concept).
• Macroevolution occurs over geologic time above the level of the species. The fossil record reflects this level
of evolution. It results from microevolution taking place over many generations.
Remember that individuals do not evolve. Their genes do not change over time. The unit of evolution is the
population. A population consists of organisms of the same species that live in the same area. In terms of evolution,
the population is assumed to be a relatively closed group. This means that most mating takes place within the
27
2.4. Population Genetics www.ck12.org
population. The science that focuses on evolution within populations is population genetics. It is a combination of
evolutionary theory and Mendelian genetics.
Gene Pool
The genetic makeup of an individual is the individual’s genotype. A population consists of many genotypes.
Altogether, they make up the population’s gene pool. The gene pool consists of all the genes of all the members of
the population. For each gene, the gene pool includes all the different alleles for the gene that exist in the population.
For a given gene, the population is characterized by the frequency of the different alleles in the gene pool.
Allele Frequencies
Allele frequency is how often an allele occurs in a gene pool relative to the other alleles for that gene. Look at
the example in the Table 2.2. The population in the table has 100 members. In a sexually reproducing species,
each member of the population has two copies of each gene. Therefore, the total number of copies of each gene in
the gene pool is 200. The gene in the example exists in the gene pool in two forms, alleles A and a. Knowing the
genotypes of each population member, we can count the number of alleles of each type in the gene pool. The table
shows how this is done.
TABLE 2.2: Number of Alleles in a Gene Pool

Genotype Number of Individuals Number of Allele A Con- Number of Allele a Con-
in the Population with tributed to the Gene tributed to the Gene
that Genotype Pool by that Genotype Pool by that Genotype
AA 50 50 × 2 = 100 50 × 0 = 0
Aa 40 40 × 1 = 40 40 × 1 = 40
aa 10 10 × 0 = 0 10 × 2 = 20
Totals 100 140 60
Let the letter p stand for the frequency of allele A. Let the letter q stand for the frequency of allele a. We can calculate
p and q as follows:
• p = number of A alleles/total number of alleles = 140/200 = 0.7

• q = number of a alleles/total number of alleles = 60/200 = 0.3
• Notice that p + q = 1.
Evolution occurs in a population when allele frequencies change over time. What causes allele frequencies to
change? That question was answered by Godfrey Hardy and Wilhelm Weinberg in 1908 (see the Hardy-Weinberg
Theorem concept).
Summary
• Microevolution occurs over a short period of time in a population or species. Macroevolution occurs over
geologic time above the level of the species.
• The population is the unit of evolution.
• A population’s gene pool consists of all the genes of all the members of the population.
• For a given gene, the population is characterized by the frequency of different alleles in the gene pool.
28
Practice
• http://www.hippocampus.org/Biology → Biology for AP* → Search: Population Genetics
1. What is the genetic mechanism of evolution?

2. How does genetic variation among a species occur?
3. Why do populations evolve, but not individuals?
4. How is the genetic makeup of a population determined?
5. How is allele frequency calculated?
Review
1. Compare microevolution to macroevolution.

2. Why are populations, rather than individuals, the units of evolution?
3. What is a gene pool?
4. Assume that a population of 50 individuals has the following numbers of genotypes for a gene with two alleles,
B and b: BB = 30, Bb = 10, and bb = 10. Calculate the frequencies of the two alleles in the population’s gene
pool.
29
2.5. Punnett Squares www.ck12.org
2.5 Punnett Squares
• Explain a Punnett square.

• Describe how to use a Punnett square for a monohybrid and dihybrid cross.
• Predict genotypes of parents and offspring using a Punnett square.
• Determine phenotypes of offspring using a Punnett square.
What do you get when you cross an apple and an orange?

Though the above fruit may not result, it would be nice to scientifically predict what would result. Predicting the
possible genotypes and phenotypes from a genetic cross is often aided by a Punnett square.
Punnett Squares
A Punnett square is a chart that allows you to easily determine the expected percentage of different genotypes in
the offspring of two parents. An example of a Punnett square for pea plants is shown in Figure 2.6. In this example,
both parents are heterozygous for flower color (Bb). The gametes produced by the male parent are at the top of
the chart, and the gametes produced by the female parent are along the side. The different possible combinations of
alleles in their offspring are determined by filling in the cells of the Punnett square with the correct letters (alleles).
At the link below, you can watch an animation in which Reginald Punnett, inventor of the Punnett square, explains
the purpose of his invention and how to use it. http://www.dnalc.org/view/16192-Animation-5-Genetic-inheritance-
follows-rules-.html
An explanation of Punnett squares can be viewed at http://www.youtube.com/watch?v=D5ymMYcLtv0 (25:16).
Another example of the use of a Punnett square can be viewed at http://www.youtube.com/watch?v=nsHZbgOmV
wg (5:40).
MEDIA
30
FIGURE 2.6
This Punnett square shows a cross be-
tween two heterozygotes, Bb. Do you
know where each letter (allele) in all
four cells comes from? Two pea plants,
both heterozygous for flower color, are
crossed. The offspring will show the dom-
inant purple coloration in a 3:1 ratio. Or,
about 75% of the offspring will be purple.
Predicting Offspring Genotypes
In the cross shown in Figure 2.6, you can see that one out of four offspring (25 percent) has the genotype BB,
one out of four (25 percent) has the genotype bb, and two out of four (50 percent) have the genotype Bb. These
percentages of genotypes are what you would expect in any cross between two heterozygous parents. Of course,
when just four offspring are produced, the actual percentages of genotypes may vary by chance from the expected
percentages. However, if you considered hundreds of such crosses and thousands of offspring, you would get very
close to the expected results, just like tossing a coin.
Predicting Offspring Phenotypes
You can predict the percentages of phenotypes in the offspring of this cross from their genotypes. B is dominant to
b, so offspring with either the BB or Bb genotype will have the purple-flower phenotype. Only offspring with the
bb genotype will have the white-flower phenotype. Therefore, in this cross, you would expect three out of four (75
percent) of the offspring to have purple flowers and one out of four (25 percent) to have white flowers. These are the
same percentages that Mendel got in his first experiment.
Determining Missing Genotypes
A Punnett square can also be used to determine a missing genotype based on the other genotypes involved in a cross.
Suppose you have a parent plant with purple flowers and a parent plant with white flowers. Because the b allele is
recessive, you know that the white-flowered parent must have the genotype bb. The purple-flowered parent, on the
other hand, could have either the BB or the Bb genotype. The Punnett square in Figure 2.7 shows this cross. The
question marks (?) in the chart could be either B or b alleles.
Can you tell what the genotype of the purple-flowered parent is from the information in the Punnett square? No;
you also need to know the genotypes of the offspring in row 2. What if you found out that two of the four offspring
have white flowers? Now you know that the offspring in the second row must have the bb genotype. One of their
31
FIGURE 2.7
Punnett Square: Cross Between White-Flowered and Purple-Flowered Pea Plants. This Punnett square shows
a cross between a white-flowered pea plant and a purple-flowered pea plant. Can you fill in the missing alleles?
What do you need to know about the offspring to complete their genotypes?
b alleles obviously comes from the white-flowered (bb) parent, because that’s the only allele this parent has. The
other b allele must come from the purple-flowered parent. Therefore, the parent with purple flowers must have the
genotype Bb.
Punnett Square for Two Characteristics
When you consider more than one characteristic at a time, using a Punnett square is more complicated. This is
because many more combinations of alleles are possible. For example, with two genes each having two alleles, an
individual has four alleles, and these four alleles can occur in 16 different combinations. This is illustrated for pea
plants in Figure 2.8. In this cross, known as a dihybrid cross, both parents are heterozygous for pod color (Gg) and
pod form (Ff ).
Summary
• A Punnett square is a chart that allows you to determine the expected percentages of different genotypes in
the offspring of two parents.
• A Punnett square allows the prediction of the percentages of phenotypes in the offspring of a cross from known
genotypes.
• A Punnett square can be used to determine a missing genotype based on the other genotypes involved in a
cross.
Making Connections
MEDIA
32
FIGURE 2.8
Punnett Square for Two Characteristics.
This Punnett square represents a cross
between two pea plants that are heterozy-
gous for two characteristics. G represents
the dominant allele for green pod color,
and g represents the recessive allele for
yellow pod color. F represents the dom-
inant allele for full pod form, and f repre-
sents the recessive allele for constricted
pod form.
Practice I
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: The Punnett Square
1. What is a Punnett square?

2. What is the size of a Punnett square used in a dihybrid cross?
3. Define the following terms: alleles, genotype, phenotype, genome.
Practice II
MEDIA
Review
1. What is a Punnett square? How is it used?

2. Draw a Punnett square of an Ss x ss cross. The S allele codes for long stems in pea plants and the s allele codes
for short stems. If S is dominant to s, what percentage of the offspring would you expect to have each phenotype?
3. What letter should replace the question marks (?) in this Punnett square? Explain how you know.
33
4. How do the Punnett squares for a monohybrid cross and a dihybrid cross differ?
5. What are the genotypes of gametes of a AaBb self-pollination?
6. Mendel carried out a dihybrid cross to examine the inheritance of the characteristics for seed color and seed
shape. The dominant allele for yellow seed color is Y, and the recessive allele for green color is y. The dominant
allele for round seeds is R, and the recessive allele for a wrinkled shape is r. The two plants that were crossed were
F1 dihybrids RrYy. Identify the ratios of traits that Mendel observed in the F2 generation. Create a Punnett square
to help you answer the question.
34
2.6 Mendelian Inheritance in Humans
• Define genetic trait.

• Distinguish autosomal traits from X-linked traits.
• Use a pedigree to determine the mode of inheritance.
• Summarize the inheritance of red-green color blindness.
What number can you see?

Red-green colorblindness is a common inherited trait in humans. About 1 in 10 men have some form of color
blindness, however, very few women are color blind. Why?
Mendelian Inheritance in Humans
Characteristics that are encoded in DNA are called genetic traits. Different types of human traits are inherited in
different ways. Some human traits have simple inheritance patterns like the traits that Gregor Mendel studied in pea
plants. Other human traits have more complex inheritance patterns.
Mendelian inheritance refers to the inheritance of traits controlled by a single gene with two alleles, one of which
may be dominant to the other. Not many human traits are controlled by a single gene with two alleles, but they are
a good starting point for understanding human heredity. How Mendelian traits are inherited depends on whether the
traits are controlled by genes on autosomes or the X chromosome.
35
2.6. Mendelian Inheritance in Humans www.ck12.org
Autosomal Traits
Autosomal traits are controlled by genes on one of the 22 human autosomes. Consider earlobe attachment. A single
autosomal gene with two alleles determines whether you have attached earlobes or free-hanging earlobes. The allele
for free-hanging earlobes (F) is dominant to the allele for attached earlobes (f ). Other single-gene autosomal traits
include widow’s peak and hitchhiker’s thumb. The dominant and recessive forms of these traits are shown in Figure
2.9. Which form of these traits do you have? What are your possible genotypes for the traits?
The chart in Figure 2.9 is called a pedigree. It shows how the earlobe trait was passed from generation to generation
within a family. Pedigrees are useful tools for studying inheritance patterns.
You can watch a video explaining how pedigrees are used and what they reveal at this link: http://www.youtube.c
om/watch?v=HbIHjsn5cHo .
FIGURE 2.9
Having free-hanging earlobes is an auto-
somal dominant trait. This figure shows
the trait and how it was inherited in a
family over three generations. Shading
indicates people who have the recessive
form of the trait. Look at (or feel) your own
earlobes. Which form of the trait do you
have? Can you tell which genotype you
have?
Other single-gene autosomal traits include widow’s peak and hitchhiker’s thumb. The dominant and recessive forms
of these traits are shown in Figure 2.10. Which form of these traits do you have? What are your possible genotypes
for the traits?
Sex-Linked Traits
Traits controlled by genes on the sex chromosomes are called sex-linked traits, or X-linked traits in the case of
the X chromosome. Single-gene X-linked traits have a different pattern of inheritance than single-gene autosomal
traits. Do you know why? It’s because males have just one X chromosome. In addition, they always inherit their X
chromosome from their mother, and they pass it on to all their daughters but none of their sons. This is illustrated in
Figure 2.11.
Because males have just one X chromosome, they have only one allele for any X-linked trait. Therefore, a recessive
X-linked allele is always expressed in males. Because females have two X chromosomes, they have two alleles for
any X-linked trait. Therefore, they must inherit two copies of the recessive allele to express the recessive trait. This
explains why X-linked recessive traits are less common in females than males. An example of a recessive X-linked
trait is red-green color blindness. People with this trait cannot distinguish between the colors red and green. More
than one recessive gene on the X chromosome codes for this trait, which is fairly common in males but relatively
rare in females ( Figure 2.12). At the following link, you can watch an animation about another X-linked recessive
trait called hemophilia A: http://www.dnalc.org/view/16315-Animation-13-Mendelian-laws-apply-to-human-being
s-.html .
36
FIGURE 2.10
Widow’s peak and hitchhiker’s thumb are dominant traits controlled by a single autosomal gene.
Summary
• A minority of human traits are controlled by single genes with two alleles.
• They have different inheritance patterns depending on whether they are controlled by autosomal or X-linked
genes.
Practice I
Use these resources to answer the questions that follow.
• http://www.hippocampus.org/Biology → Biology for AP* → Search: Sex Chromosomes
1. What is an X-linked gene? Give an example.

2. Will a color blind man always pass the color blind allele to his daughters? Why or why not?
3. How can the son of a color blind man have color blindness?
4. What is meant by a female "carrier"?
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: A Case Study
1. A homozygous freckled man marries a non-freckled woman. If freckles are dominant, will their children have
freckles? Explain your answer.
2. Using F and f, what are the genotypes of the parents? What are the genotypes of their gametes?
Practice II
• Pedigree Analysis
37
2.6. Mendelian Inheritance in Humans www.ck12.org
FIGURE 2.11
Inheritance of Sex Chromosomes. Moth-
ers pass only X chromosomes to their
children. Fathers always pass their X
chromosome to their daughters and their
Y chromosome to their sons. Can you
explain why fathers always determine the
sex of the offspring?
MEDIA
Review
1. Describe the inheritance pattern for a single-gene autosomal dominant trait, such as free-hanging earlobes.
2. Draw a pedigree for hitchhiker’s thumb. Your pedigree should cover at least two generations and include both
dominant and recessive forms of the trait. Label the pedigree with genotypes, using the letter H to represent
the dominant allele for the trait and the letter h to represent the recessive allele.
3. Why is a recessive X-linked allele always expressed in males?
4. What is necessary for a recessive X-linked allele to be expressed in females?
38
FIGURE 2.12
Pedigree for Color Blindness. Color blind-
ness is an X-linked recessive trait. Moth-
ers pass the recessive allele for the trait to
their sons, who pass it to their daughters.
5. What is an example of a recessive X-linked trait?
39
2.7. Pedigree Analysis www.ck12.org
2.7 Pedigree Analysis
• Define pedigree.
• Interpret a pedigree to determine the mode of inheritance.
What’s a pedigree?
When you are talking about a pedigree dog, it means the dog is purebred. Through selective breeding, the dog has
all the traits of that particular breed. When talking about genetics, however, a pedigree is a chart that helps show
family relationships.
Pedigree Analysis
A pedigree is a chart that shows the inheritance of a trait over several generations. A pedigree is commonly created
for families, and it outlines the inheritance patterns of genetic disorders. Pictured below is a pedigree displaying
recessive inheritance of a disorder through three generations ( Figure 2.13). From studying a pedigree, scientists
can determine the following:
• If the trait is sex-linked (on the X or Y chromosome) or autosomal (on a chromosome that does not determine
sex).
40
• If the trait is inherited in a dominant or recessive fashion.
Sometimes pedigrees can also help determine whether individuals with the trait are heterozygous or homozygous.
FIGURE 2.13
In a pedigree, squares symbolize males,
and circles represent females. A horizon-
tal line joining a male and female indicates
that the couple had offspring. Vertical
lines indicate offspring which are listed
left to right, in order of birth. Shading of
the circle or square indicates an individual
who has the trait being traced. In this
pedigree, the inheritance of the recessive
trait is being traced. A is the dominant
allele, and a is the recessive allele.
Vocabulary
• autosomal: On any chromosome other than the sex chromosomes.

• pedigree: Chart which shows the inheritance of a trait over several generations.
• sex-linked: On the X or Y chromosome.
Summary
• A pedigree is a chart which shows the inheritance of a trait over several generations.
• From studying a pedigree, scientists can determine if a trait is sex-linked or autosomal.
Practice
• Find the Gene for Whirling Disorder! at http://bioserv.fiu.edu/~walterm/human_online/labs/genetics_onlin

e/find_the_gene_for_whirling_disor.htm
1. What is Whirling Disorder?

2. Is Whirling Dosorder inherited in a dominant or recessive mannor? Why?
3. Individual 5 does not have Whirling disorder, but what colored pieces does it have that potentially could have
carried the gene for Whirling Disorder? From whom did he inherit these pieces.
4. Which puzzle piece (gene) is responsible for Whirling Disorder?
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2.7. Pedigree Analysis www.ck12.org
Review
1. What is a pedigree?
2. How might a pedigree aid a scientist?
42
2.8 Genetic Disorders
• Define genetic disorder.

• Explain what is means to be a carrier.
• Describe genetic disorders caused by mutations.
• Describe genetic disorders that result from an abnormal numbers of chromosomes.
• Summarize the role of a genetic counselor.
• Explain gene therapy.
Is being short-statured inherited?

It can be. Achondroplasia is the most common form of dwarfism in humans, and it is caused by a dominant mutation.
The mutation can be passed from one generation to the next.
43
2.8. Genetic Disorders www.ck12.org
Genetic Disorders
Many genetic disorders are caused by mutations in one or a few genes. Other genetic disorders are caused by
abnormal numbers of chromosomes.
Genetic Disorders Caused by Mutations
The Table 2.3 lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused
by mutations in autosomal genes, others by mutations in X-linked genes. Which disorder would you expect to be
more common in males than females? You can watch a video about the human genome, genetic disorders, and
mutations at this link: http://www.pbs.org/wgbh/nova/programs/ht/rv/2809_03.html .
You can click on any human chromosome at this link to see the genetic disorders associated with it: http://www.o
rnl.gov/sci/techresources/Human_Genome/posters/chromosome/chooser.shtml .
TABLE 2.3: Genetic Disorders Caused by Mutations

Genetic Disorder Direct Effect of Muta- Signs and Symptoms of Mode of Inheritance
tion the Disorder
Marfan syndrome defective protein in con- heart and bone defects autosomal dominant
nective tissue and unusually long, slen-
der limbs and fingers
Sickle cell anemia abnormal hemoglobin sickle-shaped red blood autosomal recessive
protein in red blood cells cells that clog tiny blood
vessels, causing pain and
damaging organs and
joints
Vitamin D-resistant rick- lack of a substance soft bones that easily be- X-linked dominant
ets needed for bones to come deformed, leading
absorb minerals to bowed legs and other
skeletal deformities
Hemophilia A reduced activity of a pro- internal and external X-linked recessive
tein needed for blood clot- bleeding that occurs
ting easily and is difficult to
control
Few genetic disorders are controlled by dominant alleles. A mutant dominant allele is expressed in every individual
who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce.
Therefore, the mutant dominant allele is likely to die out of the population.
A mutant recessive allele, such as the allele that causes sickle cell anemia (see Figure 2.14 and the link that follows),
is not expressed in people who inherit just one copy of it. These people are called carriers. They do not have the
disorder themselves, but they carry the mutant allele and can pass it to their offspring. Thus, the allele is likely to
pass on to the next generation rather than die out. http://www.dnalc.org/resources/3d/17-sickle-cell.html
Cystic Fibrosis and Tay-Sachs disease are two additional severe genetic disorders. They are discussed in the fol-
lowing video: http://www.youtube.com/watch?v=8s4he3wLgkM (9:31). Tay-Sachs is further discussed at http://w
ww.youtube.com/watch?v=1RO0LOgHbIo (3:13) and http://www.youtube.com/watch?v=6zNj5LdDuTA (2:01).
44
FIGURE 2.14
Sickle-Shaped and Normal Red Blood
Cells. Sickle cell anemia is an autosomal
recessive disorder. The mutation that
causes the disorder affects just one amino
acid in a single protein, but it has seri-
ous consequences for the affected per-
son. This photo shows the sickle shape
of red blood cells in people with sickle cell
anemia.
Chromosomal Disorders
Mistakes may occur during meiosis that result in nondisjunction. This is the failure of replicated chromosomes to
separate during meiosis (the animation at the link below shows how this happens). Some of the resulting gametes will
be missing a chromosome, while others will have an extra copy of the chromosome. If such gametes are fertilized
and form zygotes, they usually do not survive. If they do survive, the individuals are likely to have serious genetic
disorders. Table 2.4 lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most
chromosomal disorders involve the X chromosome. Look back at the X and Y chromosomes and you will see why.
The X and Y chromosomes are very different in size, so nondisjunction of the sex chromosomes occurs relatively
often. http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/index.html
TABLE 2.4: Genetic Disorders Caused by Abnormal Numbers of Chromosomes

Genetic Disorder Genotype Phenotypic Effects
Down syndrome extra copy (complete or partial) of developmental delays, distinctive
chromosome 21 (see Figure 2.15) facial appearance, and other abnor-
malities (see Figure 2.15)
Turner’s syndrome one X chromosome but no other sex female with short height and infer-
chromosome (XO) tility (inability to reproduce)
Triple X syndrome three X chromosomes (XXX) female with mild developmental de-
lays and menstrual irregularities
Klinefelter’s syndrome one Y chromosome and two or male with problems in sexual de-
more X chromosomes (XXY, velopment and reduced levels of the
XXXY) male hormone testosterone
FIGURE 2.15
(left) Trisomy 21 (Down Syndrome) Kary-
otype. A karyotype is a picture of a
cell’s chromosomes. Note the extra chro-
mosome 21. (right) Child with Down
syndrome, exhibiting characteristic facial
45
appearance.
Treating Genetic Disorders
The symptoms of genetic disorders can sometimes be treated, but cures for genetic disorders are still in the early
stages of development. One potential cure that has already been used with some success is gene therapy. This
involves inserting normal genes into cells with mutant genes. At the following link, you can watch the video "Sickle
Cell Anemia: Hope from Gene Therapy," to learn how scientists are trying to cure sickle-cell anemia with gene
therapy. http://www.pubinfo.vcu.edu/secretsofthesequence/playlist_frame.asp
If you could learn your risk of getting cancer or another genetic disease, would you? Though this is a personal
decision, it is a possibility. A number of companies now makes it easy to order medical genetic tests through the
Web. See Genetic Testing through the Web at http://www.kqed.org/quest/television/genetic-testing-through-the-web
.
MEDIA
Summary
• Many genetic disorders are caused by mutations in one or a few genes.

• Other genetic disorders are caused by abnormal numbers of chromosomes.
Practice
• http://www.hippocampus.org/Biology → Biology for AP* → Search: Chromosomal Abnormalities
1. What is chromosome nondisjunction?

2. What is Turner syndrome? What are its characteristics?
3. Describe the outcomes of chromosome nondisjunction in a male.
4. Define aneuploidy.
5. What is the difference between monosomy and trisomy?
6. What are the odds that a 45-year-old woman will have a baby with Down syndrome?
7. What is a karyotype? What can a karyotype demonstrate?
8. What is AML? What can cause AML?
Review
1. Describe a genetic disorder caused by a mutation in a single gene.

2. What causes Down syndrome?
3. What is nondisjunction?
4. What is gene therapy?
5. Explain why genetic disorders caused by abnormal numbers of chromosomes most often involve the X
chromosome.
46
2.9 References
1. Forest and Kim Starr/Starr Environmental. Purple flowers are dominant to white in pea plants. CC BY 2.0
2. Erik Nordenskiöld. Portrait of Gregor Mendel. Public Domain
3. Rupali Raju. The Laws of Heredity. CC BY-NC 3.0
4. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Result of Mendel’s experiment with purple and
white flowered plants. CC BY-NC 3.0
5. Zachary Wilson. Different genotypes will lead to different phenotypes of an organism. CC BY-NC 3.0
6. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Punnett square cross between two heterozy-
gotes. CC BY-NC 3.0
7. Jodi So. Test cross with a Punnett square. CC BY-NC 3.0
8. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Punnett square for two characteristics. CC
BY-NC 3.0
9. Dominant: User:Covalent/Wikipedia; Recessive: Claire P.; pedigree created by Sam McCabe (CK-12 Foun-
dation). Pedigree for earlobe attachment. Dominant: Public Domain; Recessive: CC BY 2.0
10. Left to right: Image copyright Alberto Zornetta, 2014; Image copyright iko, 2014; Eva Blue; Sara Reid.
Widow’s peak and hitchhiker’s thumb are dominant traits. Left to right: Used under license from Shutter-
stock.com, Used under license from Shutterstock.com; CC BY 2.0; CC BY 2.0
11. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Sex-linked traits and inheritance. CC BY-NC
3.0
12. Jodi So. Pedigree for color blindness. CC BY-NC 3.0
13. Zachary Wilson. Symbols of a pedigree, and an example pedigree. CC BY-NC 3.0
14. Image copyright Sebastian Kaulitzk, 2013. Sickle cell anemia and normal red blood cells. Used under license
from Shutterstock.com
15. Karyotype: Courtesy of National Human Genome Research Institute; Photo: Erin Ryan. Karyotype and Down
Syndrome. Public Domain
47
www.ck12.org
C HAPTER
3 What is DNA?
Chapter Outline
3.1 DNA, THE G ENETIC M ATERIAL
3.2 RNA
3.3 T RANSCRIPTION OF DNA TO RNA
3.4 T RANSLATION OF RNA TO P ROTEIN
3.5 G ENETIC C ODE
3.6 G ENE E XPRESSION
3.7 R EFERENCES
48
www.ck12.org Chapter 3. What is DNA?
3.1 DNA, the Genetic Material
• Explain the importance of DNA.

• Define and describe a nucleotide.
• Describe the shape of DNA.
• Summarize the base-pairing rules.
Where’s the instructions?

How do your cells know what to do? Just like builders have blueprints to tell them how to build a house, your cells
also have instructions. Your cells’ instructions are molecules of DNA.
What is DNA?
DNA is the material that makes up our chromosomes and stores our genetic information. When you build a house,
you need a blueprint, a set of instructions that tells you how to build. The DNA is like the blueprint for living
organisms. The genetic information is a set of instructions that tell your cells what to do.
DNA is an abbreviation for deoxyribonucleic acid. As you may recall, nucleic acids are a type of macromolecule
that store information. The deoxyribo part of the name refers to the name of the sugar that is contained in DNA,
deoxyribose. DNA may provide the instructions to make up all living things, but it is actually a very simple molecule.
49
3.1. DNA, the Genetic Material www.ck12.org
DNA is made of a very long chain of nucleotides. In fact, in you, the smallest DNA molecule has well over 20 million
nucleotides.
Nucleotides
Nucleotides are composed of three main parts:
1. a phosphate group.
2. a 5-carbon sugar (deoxyribose in DNA).
3. a nitrogen-containing base.
The only difference between each nucleotide is the identity of the base. There are only four possible bases that make
up each DNA nucleotide: adenine (A), guanine (G), thymine (T), and cytosine (C).
The Genetic Code
The various sequences of the four nucleotide bases make up the genetic code of your cells. It may seem strange that
there are only four letters in the “alphabet” of DNA. But since your chromosomes contain millions of nucleotides,
there are many, many different combinations possible with those four letters.
But how do all these pieces fit together? James Watson and Francis Crick won the Nobel Prize in 1962 for piecing
together the structure of DNA. Together with the work of Rosalind Franklin and Maurice Wilkins, they determined
that DNA is made of two strands of nucleotides formed into a double helix, or a two-stranded spiral, with the sugar
and phosphate groups on the outside, and the paired bases connecting the two strands on the inside of the helix (
Figure 3.1).
FIGURE 3.1
DNA’s three-dimensional structure is a
double helix. The hydrogen bonds be-
tween the bases at the center of the helix
hold the helix together.
50
Base-Pairing
The bases in DNA do not pair randomly. When Erwin Chargaff looked closely at the bases in DNA, he noticed
that the percentage of adenine (A) in the DNA always equaled the percentage of thymine (T), and the percentage
of guanine (G) always equaled the percentage of cytosine (C). Watson and Crick’s model explained this result by
suggesting that A always pairs with T, and G always pairs with C in the DNA helix. Therefore A and T, and G and
C, are "complementary bases," or bases that always pair together, known as a base-pair. The base-pairing rules
state that A will always bind to T, and G will always bind to C ( Figure 3.2). For example, if one DNA strand reads
ATGCCAGT, the other strand will be made up of the complementary bases: TACGGTCA.
FIGURE 3.2
The chemical structure of DNA includes
a chain of nucleotides consisting of a 5-
carbon sugar, a phosphate group, and
a nitrogen base. Notice how the sugar
and phosphate form the backbone of DNA
(strands highlighted in pink), with the hy-
drogen bonds between the bases joining
the two strands.
Vocabulary
• base-pair: Bases in DNA that complement each other and are linked by hydrogen bonds.
• chromosome: DNA wound around proteins; the chromosome forms during prophase of mitosis and meiosis
(prophase I).
• DNA (deoxyribonucleic acid): Nucleic acid that is the genetic material of all organisms.
• double helix: Shape of DNA; a double spiral, similar to a spiral staircase.
• nucleic acid: Class of organic compound; nucleic acid includes DNA and RNA.
• nucleotide: Units that make up DNA; the nucleotide consists of a 5-carbon sugar, a phosphate group, and a
nitrogen-containing base.
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3.1. DNA, the Genetic Material www.ck12.org
Summary
• DNA stores the genetic information of the cell in the sequence of its 4 bases: adenine, thymine, guanine, and
cytosine.
• DNA is made of a long chain of nucleotides consisting of a 5-carbon sugar, a phosphate group, and nitrogen-
containing base.
Practice
Practice I
• What Is DNA? at http://learn.genetics.utah.edu/content/begin/dna/ . Click on the box "What Is DNA?" on
the left side of the page.
1. Where is nuclear DNA located in a eukaryotic organism?

2. Describe the structure of DNA.
3. What is another name for the "sentences" that DNA encodes?
4. What to genes tell a cell to do?
Practice II
• Go to this link to build a DNA molecule: http://learn.genetics.utah.edu/content/begin/dna/builddna/ .
1. How long does it take a human cell to copy the DNA in its nucleus before it divides?
2. How many new cells does your body produce every day?
3. How many hydrogen bonds form between guanine and cytosine? How many hydrogen bonds form between
adenine and thymine? Do you think this relationship helps minimize errors? Explain your reasoning.
4. What steps does the cell take to speed the rate of DNBA replication?
Review
1. Describe the structure of DNA.

2. What does a nucleotide consist of?
3. What are the base-pairing rules?
4. If one DNA strand reads CCGTAATGCAT, what will be the sequence of the complimentary strand?
52
3.2 RNA
• Distinguish between DNA and RNA.

• Name the three types of RNA.
• Explain the functions of each type of RNA.
How does your DNA send a message?

DNA is the blueprint that provides the directions on how to build all the proteins your body needs to function.
However, DNA is confined to the nucleus and, therefore, isn’t involved directly in the process of actually making
the proteins. So how does DNA tell the rest of the cell what to do? It sends a message! The messengers consist of a
special type of RNA.
Three RNAs
DNA contains the instructions to create proteins, but it does not make proteins itself. DNA is located in the nucleus,
which it never leaves, while proteins are made on ribosomes in the cytoplasm. So DNA needs a messenger to
bring its instructions to a ribosome located outside of the nucleus. DNA sends out a message, in the form of RNA
(ribonucleic acid), describing how to make the protein.
53
3.2. RNA www.ck12.org
There are three types of RNA directly involved in protein synthesis:
• Messenger RNA ( mRNA) carries the instructions from the nucleus to the cytoplasm.
• The other two forms of RNA, ribosomal RNA ( rRNA) and transfer RNA ( tRNA), are involved in the
process of ordering the amino acids to make the protein. rRNA becomes part of the ribosome, which is the
site of protein synthesis, and tRNA brings an amino acid to the ribosome so it can be added to a growing
chain during protein synthesis. There are numerous tRNAs, as each tRNA is specific for an amino acid. The
amino acid actually attaches to the tRNA during this process. More about RNAs will be discussed during the
Transcription and Translation Concepts.
All three RNAs are nucleic acids, made of nucleotides, similar to DNA ( Figure 3.3). The RNA nucleotide is
different from the DNA nucleotide in the following ways:
• RNA contains a different kind of sugar, called ribose.

• In RNA, the base uracil (U) replaces the thymine (T) found in DNA.
• RNA is a single strand molecule.
FIGURE 3.3
A comparison of DNA and RNA, with the
bases of each shown. Notice that in RNA,
uracil replaces thymine.
Vocabulary
• RNA: Single-stranded nucleic acid involved in protein synthesis.

• mRNA: Molecule that carries the instructions from the DNA to the rest of the cell; messenger RNA.
• rRNA: One of the molecules that makes up ribosomes; ribosomal RNA.
• tRNA: Molecule that carries a specific amino acid to the ribosome to make protein; transfer RNA.
Summary
• Messenger RNA (mRNA) carries the instructions from the nucleus to the cytoplasm.
54
• The other two forms of RNA, ribosomal RNA (rRNA) and transfer RNA (tRNA), are involved in the process
of ordering the amino acids to make proteins.
• RNA is a nucleic acid, like DNA, but differs slightly in its structure.
Practice
• Three types of RNA at http://www.youtube.com/watch?v=Kf5NeG97-38 (1:13)
MEDIA
1. What does mRNA do? Where does it do this?

2. What does tRNA do? Where does it do this?
3. What does rRNA do? Where does it do this?
4. Describe the structure of the ribosome.
Review
1. What is the role of the mRNA in the cell?

2. Compare and contrast the composition of DNA and RNA.
3. What are the roles of tRNA and rRNA?
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3.3. Transcription of DNA to RNA www.ck12.org
3.3 Transcription of DNA to RNA
• Define transcription.
• Explain the relationship between a codon and the mRNA.
• Describe how mRNA is created from DNA.
How does DNA write its message?

The process of DNA sending a message to the cytoplasm is called transcription. Transcription means "a written
copy." However, DNA can’t get out a pen and write a message. It creates an mRNA molecule to carry the message.
Transcription
DNA is located in the nucleus. Proteins are made on ribosomes in the cytoplasm. Remember that information in a
gene is converted into mRNA, which carries the information to the ribosome. In the nucleus, mRNA is created by
using the DNA in a gene as a template. A template is a model provided for others to copy.
The process of constructing an mRNA molecule from DNA is known as transcription ( Figure 3.4 and Figure
3.5). The double helix of DNA unwinds and an enzyme, RNA Polymerase, builds the mRNA using the DNA as a
template. The nucleotides follow basically the same base pairing rules as in DNA to form the correct sequence in
the mRNA. This time, however, uracil (U) pairs with each adenine (A) in the DNA. For example, a DNA sequence
ACGGGTAAGG will be transcribed into the mRNA sequence UGCCCAUUCC. In this manner, the information of
the DNA is passed on to the mRNA. The mRNA will carry this code to the ribosomes to tell them how to make a
protein.
As not all genes are used in every cell, a gene must be "turned on" or expressed when the gene product is needed by
the cell. Only the information in a gene that is being expressed is transcribed into an mRNA.
56
FIGURE 3.4
Each gene (a) contains triplets of bases
(b) that are transcribed into RNA (c). Ev-
ery triplet, or codon, encodes for a unique
amino acid.
FIGURE 3.5
Base-pairing ensures the accuracy of
transcription. Notice how the helix must
unwind for transcription to take place. The
new mRNA is shown in green.
Vocabulary
• codon: Triplet (3) of bases in the mRNA that codes for a specific amino acid.
• gene: Inherited unit of DNA that encodes for one protein (or one polypeptide).
• mRNA: Molecule that carries the instructions from the DNA to the rest of the cell; messenger RNA.
• template: Model provided for others to copy.
• transcription: Process of constructing an mRNA molecule from DNA.
Summary
• The process of constructing an mRNA molecule from DNA is known as transcription.

• The base pairing rules ensure that the DNA code is conserved in the sequence in the mRNA.
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3.3. Transcription of DNA to RNA www.ck12.org
Practice
Practice I
• Transcription and Translation at http://www.youtube.com/watch?v=41_Ne5mS2ls (4:06)
MEDIA
1. How is RNA different from DNA? Do you think this difference is important? Why?
2. Where is the mRNA made?
3. Where does the mRNA go after it is produced?
Practice II
• Cell Transcription at http://www.pbslearningmedia.org/asset/lsps07_int_celltrans/
1. How many regions of a gene are there? What are they called? What is the function of each region?
2. Imagine one of these three regions was deleted by a mutation. What would happen during transcription?
Explain your answer for each separate region.
3. What is the function of RNA polymerase? What kind of molecule is RNA polymerase?
Review
1. What is the final product of transcription?

2. How does the genetic code in the DNA get passed on to the mRNA?
3. What will be the mRNA sequence transcribed from a TTAAACGGCCTA template?
58
3.4 Translation of RNA to Protein
• Define translation.
• Explain how the RNAs interact during translation.
• Summarize the process of translation.
RNA to proteins. How?

You must translate. To go from one language to another. Spanish to English, French to German, or nucleotides to
amino acids. Which type is the translation of molecular biology? Obviously, the type of translating discussed here
translates from the language of nucleotides to the language of amino acids.
Translation
Translation is the second part of the central dogma of molecular biology: RNA → Protein. It is the process in which
the genetic code in mRNA is read, one codon at a time, to make a protein. Figure 3.6 shows how this happens.
After mRNA leaves the nucleus, it moves to a ribosome, which consists of rRNA and proteins. The ribosome reads
the sequence of codons in mRNA. Molecules of tRNA bring amino acids to the ribosome in the correct sequence.
To understand the role of tRNA, you need to know more about its structure. Each tRNA molecule has an anticodon
for the amino acid it carries. An anticodon is a sequence of 3 bases, and is complementary to the codon for an
amino acid. For example, the amino acid lysine has the codon AAG, so the anticodon is UUC. Therefore, lysine
would be carried by a tRNA molecule with the anticodon UUC. Wherever the codon AAG appears in mRNA, a UUC
anticodon on a tRNA temporarily binds to the codon. While bound to the mRNA, the tRNA gives up its amino acid.
Bonds form between adjacent amino acids as they are brought one by one to the ribosome, forming a polypeptide
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3.4. Translation of RNA to Protein www.ck12.org
FIGURE 3.6
Translation of the codons in mRNA to a chain of amino acids occurs at a ribosome. Notice the growing amino
acid chain attached to the tRNAs and ribosome. Find the different types of RNA in the diagram. What are their
roles in translation?
chain. The chain of amino acids keeps growing until a stop codon is reached. To see how this happens, go the link
below. http://www.youtube.com/watch?v=B6O6uRb1D38 (1:29)
After a polypeptide chain is synthesized, it may undergo additional processes. For example, it may assume a folded
shape due to interactions among its amino acids. It may also bind with other polypeptides or with different types
of molecules, such as lipids or carbohydrates. Many proteins travel to the Golgi apparatus to be modified for the
specific job they will do. You can see how this occurs by watching the animation at this link: http://vcell.ndsu.ed
u/animations/proteinmodification/movie-flash.htm .
Summary
• Translation is the RNA → Protein part of the central dogma.

• Translation occurs at a ribosome.
• During translation, a protein is synthesized using the codons in mRNA as a guide.
• All three types of RNA play a role in translation.
Making Connections
MEDIA
Practice I
60
FIGURE 3.7
The tRNA structure is a very important as-
pect in its role. Though the molecule folds
into a 3-leaf clover structure, notice the
anticodon arm in the lower segment of the
molecule, with the amino acid attached
at the opposite end of the molecule (ac-
ceptor stem). It is the anticodon that
determines which codon in the mRNA the
tRNA will bind to.
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: Translation
1. Translation needs what three components?

2. Describe the structure of a ribosome.
3. Describe the structure and role of a tRNA molecule.
4. Define codon and anticodon.
5. How does termination occur?
Practice II
• Protein Synthesis at http://www.wisc-online.com/Objects/ViewObject.aspx?ID=AP1302 .
• RNA Translation at http://johnkyrk.com/DNAtranslation.html .
• How Do Cells Make Proteins? at http://ca.pbslearningmedia.org/content/lsps07.sci.life.stru.lpbiosystems

/#content/4dd2fb6badd2c73bce006585 .
• Transcribe and Translate a Gene at http://learn.genetics.utah.edu/content/begin/dna/transcribe/ .
Review
1. Outline the steps of translation.
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3.4. Translation of RNA to Protein www.ck12.org
2. Discuss the structure of a tRNA molecule, and its role in translation.

3. How are transcription and translation related to the central dogma of molecular biology?
62
3.5 Genetic Code
• Define codon and reading frame.

• Summarize the necessity of the genetic code.
• Explain the role of stop codons.
• Describe characteristics of the genetic code.
How do you go from four letters to 20 amino acids?

You need a code. And the code that changes the information embedded in DNA and RNA into ordered amino acids
and proteins is the genetic code. And every living organism uses the same genetic code.
The Genetic Code
How is the information in a gene encoded? The answer is the genetic code. The genetic code consists of the
sequence of nitrogen bases—A, C, G, U—in an mRNA chain. The four bases make up the “letters” of the genetic
code. The letters are combined in groups of three to form code “words,” called codons. Each codon stands for
(encodes) one amino acid, unless it codes for a start or stop signal.
There are 20 common amino acids in proteins. There are 64 possible codons, more than enough to code for the 20
amino acids. The genetic code is shown in Figure 3.8. To see how scientists cracked the genetic code, go to this
link: http://www.dnalc.org/view/16494-Animation-22-DNA-words-are-three-letters-long-.html .
Reading the Genetic Code
As shown in Figure 3.8, the codon AUG codes for the amino acid methionine. This codon is also the start codon
that begins translation. The start codon establishes the reading frame of mRNA. The reading frame is the way the
letters are divided into codons. After the AUG start codon, the next three letters are read as the second codon. The
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3.5. Genetic Code www.ck12.org
FIGURE 3.8
The Genetic Code. To find the amino acid
for a particular codon, find the cell in the
table for the first and second bases of the
codon. Then, within that cell, find the
codon with the correct third base. For ex-
ample CUG codes for leucine, AAG codes
for lysine, and GGG codes for glycine.
next three letters after that are read as the third codon, and so on. This is illustrated in Figure 3.9. The mRNA
molecule is read, codon by codon, until a stop codon is reached. UAG, UGA, and UAA are all stop codons. They
do not code for any amino acids. Stop codons are also known as termination codons.
FIGURE 3.9
Reading the Genetic Code. The ge-
netic code is read three bases at a time.
Codons are the code words of the genetic
code. Which amino acid does codon 2 in
the drawing stand for?
64
Characteristics of the Genetic Code
The genetic code has a number of important characteristics.
• The genetic code is universal. All known living organisms use the same genetic code. This shows that all
organisms share a common evolutionary history.
• The genetic code is unambiguous. Each codon codes for just one amino acid (or start or stop). What might
happen if codons encoded more than one amino acid?
• The genetic code is redundant. Most amino acids are encoded by more than one codon. In Figure 3.8, how
many codons code for the amino acid threonine? What might be an advantage of having more than one codon
for the same amino acid?
Summary
• The genetic code consists of the sequence of bases in DNA or RNA.

• Groups of three bases form codons, and each codon stands for one amino acid (or start or stop).
• The codons are read in sequence following the start codon until a stop codon is reached.
• The genetic code is universal, unambiguous, and redundant.
Making Connections
MEDIA
Practice I
• http://www.hippocampus.org/Biology → Biology for AP* → Search: Decoding RNA
1. What is a polypeptide?
2. How do the 4 nucleotides code for 20 amino acids?
3. What is the meaning of a "triplet code"?
4. Describe the 4 properties of codons.
5. Describe how the genetic code was "cracked."
6. What is the start codon?
7. How many stop codons are there? What do these codons signal?
8. What is a reading frame? Why are reading frames important?
9. What amino acid do the following codons encode: UUC, UCU, CUU?
Practice II
• Transcribe and Translate a Gene at http://learn.genetics.utah.edu/content/begin/dna/transcribe/ .
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3.5. Genetic Code www.ck12.org
Review
1. What is the genetic code?

2. What are codons? How many codons are there?
3. Use the genetic code to translate the following segment of RNA into a sequence of five amino acids: GUC-
GCG-CAU-AGC-AAG
4. The genetic code is universal, unambiguous, and redundant. Explain what this means.
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3.6 Gene Expression
• Explain the meaning of gene expression.

• Identify general mechanisms that regulate gene expression.
• Describe the roles of regulatory proteins, transcription factors, cis-regulatory elements and enhancers.
• Define an initiation complex.
Can your expression change at any moment?

As you know, a person’s expression can change moment by moment. The expression that is demonstrated is usually
appropriate for that moment’s feelings. Gene expression is the use of a gene whose product is necessary for that
moment. It may be a moment during development, it may be a moment of increased anxiety, or it may be in response
to an environmental change. Whenever a particular protein is needed, gene expression provides it.
Gene Expression
Each of your cells has at least 20,000 genes. In fact, all of your cells have the same genes. Do all of your cells
make the same proteins? Obviously not. If they did, then all your cells would be alike. Instead, you have cells with
different structures and functions. This is because different cells make different proteins. They do this by using, or
expressing, different genes. Using a gene to make a protein is called gene expression.
How Gene Expression is Regulated
Gene expression is regulated to ensure that the correct proteins are made when and where they are needed. Regulation
may occur at any point in the expression of a gene, from the start of transcription to the processing of a protein after
translation. Following is a list of stages where gene expression is regulated:
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3.6. Gene Expression www.ck12.org
• Chemical and structural modification of DNA or chromatin

• Transcription
• Translation
• Post-transcriptional modification
• RNA transport
• mRNA degradation
• Post-translational modifications
As shown in Figure 3.10, transcription is controlled by regulatory proteins binding to the DNA. Specifically, gene
regulation at the level of transcription controls when transcription occurs as well as how much RNA is created. A
regulatory protein, or a transcription factor, is a protein involved in regulating gene expression. It is usually bound
to a cis-regulatory element, which is part of the DNA. Regulatory proteins often must be bound to a cis-regulatory
element to switch a gene on ( activator), or to turn a gene off ( repressor).
Transcription of a gene by RNA polymerase can be regulated by at least five mechanisms:
• Specificity factors (proteins) alter the specificity of RNA polymerase for a promoter or set of promoters,
making it more or less likely to bind to the promoter and begin transcription.
• Activator proteins enhance the interaction between RNA polymerase and a particular promoter.
• Repressor proteins bind to non-coding sequences on the DNA that are close to or overlap the promoter region,
impeding RNA polymerase’s progress along the strand.
• Basal factors are transcription factors that help position RNA polymerase at the start of a gene.
• Enhancers are sites on the DNA strand that are bound by activators in order to loop the DNA, bringing a
specific transcription factor to the initiation complex. An initiation complex is composed of RNA polymerase
and transcription factors.
As the organism grows more sophisticated, gene regulation becomes more complex, though prokaryotic organisms
possess some highly regulated systems. Some human genes are controlled by many activators and repressors working
together. Obviously, a mutation in a cis-regulatory region, such as the promoter, can greatly affect the proper
expression of a gene. It may keep the gene permanently off, such that no protein can be made, or it can keep the
gene permanently on, such that the corresponding protein is constantly made. Both of these can have detremental
effects on the cell.
Summary
• Gene transcription is controlled by regulatory proteins that bind to regulatory elements on DNA.
• The proteins usually either activate or repress transcription.
Practice
• http://www.hippocampus.org/Biology → Biology for AP* → Search: The Regulation of Gene Expression
1. What percentage of its genes does a typical human cell express?

2. List three ways gene expression may be regulated.
3. Draw a diagram of an enhancer interacting with its promoter.
4. Compare euchromatin to heterochromatin.
5. Discuss how chromosomal rearrangements may effect gene expression.
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FIGURE 3.10
Regulation of Transcription. Regulatory proteins bind to regulatory elements to control transcription. The
regulatory elements are embedded within the DNA.
Review
1. What is gene expression?

2. Why is gene expression regulated?
3. List three stages where gene expression is regulated.
4. Describe how regulatory proteins regulate gene expression.
5. Compare activators to repressors.
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3.7. References www.ck12.org
3.7 References
1. Image copyright ermess, 2014. The double helix of DNA. Used under license from Shutterstock.com
2. Mariana Ruiz Villarreal (LadyofHats). The chemical structure of DNA. CC BY-NC 3.0
3. Laura Guerin. A comparison of DNA and RNA. CC BY-NC 3.0
4. Hana Zavadska, based on image by Stephanie Greenwood (available under Public Domain at http://commons.wikimedia.org
Overview of transcription. CC BY-NC 3.0
5. National Human Genome Research Institute. Diagram of transcription of DNA to mRNA. Public Domain
6. Original image by the National Human Genome Research Institute, redrawn by Mariana Ruiz Villarreal
(LadyofHats) for CK-12 Foundation. DNA transcription to mRNA, which translates to a chain of amino
acids at a ribosome. CC BY-NC 3.0
7. Kyle Schneider. Structure of tRNA. Public Domain
8. Hana Zavadska. mRNA to amino acid translation table. CC BY-NC 3.0
9. Zachary Wilson. How to read the genetic code using codons. CC BY-NC 3.0
10. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Regulation of transcription. CC BY-NC 3.0
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www.ck12.org Chapter 4. Genetic Alteration on Living Things
C HAPTER
4 Genetic Alteration on Living
Things
Chapter Outline
4.1 H UMAN G ENOME P ROJECT
4.2 R ECOMBINANT DNA
4.3 G ENE T HERAPY
4.4 G ENETIC D ISORDERS
4.5 G ENETIC L INKAGE
4.6 M UTATION E FFECTS
4.7 M UTATION C AUSES
4.8 E UKARYOTIC G ENE R EGULATION
4.9 C ARCINOGENS AND C ANCER
4.10 C ANCER
4.11 E THICAL , L EGAL , AND S OCIAL I SSUES OF B IOTECHNOLOGY
4.12 R EFERENCES
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4.1. Human Genome Project www.ck12.org
4.1 Human Genome Project
• Explain the significance of the Human Genome Project.
What is your genetic code?

The sequence of letters above represents bases in someone’s DNA. It is now possible to find out a person’s entire
genetic code by determining all the bases in his or her DNA. What might be the benefits?
Human Genome Project
A person’s genome is all of his or her genetic information. In other words, the human genome is all the information
that makes us human.
The Human Genome Project ( Figure 4.1) was an international effort to sequence all 3 billion bases that make up
our DNA and to identify within this code more than 20,000 human genes. Scientists also completed a chromosome
map, identifying where the genes are located on each of the chromosomes. The Human Genome Project was
completed in 2003. Though the Human Genome Project is finished, analysis of the data will continue for many
years.
Exciting applications of the Human Genome Project include the following:
• The genetic basis for many diseases can be more easily determined. Now there are tests for over 1,000 genetic
disorders.
• The technologies developed during this effort, and since the completion of this project, will reduce the cost of
sequencing a person’s genome. This may eventually allow many people to sequence their individual genome.
• Analysis of your own genome could determine if you are at risk for specific diseases.
• Knowing you might be genetically prone to a certain disease would allow you to make preventive lifestyle
changes or have medical screenings.
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FIGURE 4.1
To complete the Human Genome Project,
all 23 pairs of chromosomes in the human
body were sequenced. Each chromo-
some contains thousands of genes. This
is a karyotype, a visual representation of
an individual’s chromosomes lined up by
size.
The video Our Molecular Selves discusses the human genome, and is available at http://www.genome.gov/25520211
or http://www.youtube.com/watch?v=_EK3g6px7Ik . Genome, Unlocking Life’s Code is the Smithsonian National
Museum of Natural History’s exhibit on the human genome. See http://unlockinglifescode.org to visit the exhibit.
MEDIA
Vocabulary
• genome: Complete genetic code of an organism.

• Human Genome Project: International effort to sequence all 3 billion bases that make up our DNA and to
identify within this code more than 20,000 human genes.
Summary
• The Human Genome Project involved an international effort to sequence all 3 billion bases that make up our
DNA and to identify within this code more than 20,000 human genes.
• Analysis of your own genome could determine if you are at risk for specific diseases.
Practice
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4.1. Human Genome Project www.ck12.org
Practice I
• PCR Virtual Lab at http://learn.genetics.utah.edu/content/labs/pcr/
1. How many copies of a DNA sequence can be made in a matter of hours using PCR?
2. About how much DNA do you need to start the PCR process?
3. Can you use the same primers for every DNA sequence you want to investigate? Why or why not?
4. How many "ingredients" go into your PCR tube? What are they?
5. What happens at 95°C during the PCR process?
6. What happens at 72°C during the PCR process?
Practice II
• Personal Genome Project at http://www.personalgenomes.org
1. What is the goal of the personal genome project?

2. What information are they seeking besides a person’s genome?
3. Why participate in the PGP?
Review
1. What is a person’s genome?

2. Describe the Human Genome Project.
3. Would you want to know your own genome? Why or why not?
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4.2 Recombinant DNA
• Define recombinant DNA.

• Summarize the steps of gene cloning.
Can we alter DNA?

You might think that DNA is stable and unchangeable. For the most part you are right. However, there are new
technologies that allow us to alter the DNA of humans and other organisms.
Recombinant DNA
Recombinant DNA is the combination of DNA from two different sources. For example, it is possible to place
a human gene into bacterial DNA. Recombinant DNA technology is useful in gene cloning and in identifying the
function of a gene.
Recombinant DNA technology can also be used to produce useful proteins, such as insulin. To treat diabetes, many
people need insulin. Previously, insulin had been taken from animals. Through recombinant DNA technology,
bacteria were created that carry the human gene which codes for the production of insulin. These bacteria become
tiny factories that produce this protein. Recombinant DNA technology helps create insulin so it can be used by
humans.
Recombinant DNA technology is used in gene cloning. A clone is an exact copy. Genes are cloned for many reasons,
including use in medicine and in agriculture.
Below are the steps used to copy, or clone, a gene:
1. A gene or piece of DNA is put in a vector, or carrier molecule, producing a recombinant DNA molecule.
2. The vector is placed into a host cell, such as a bacterium.
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4.2. Recombinant DNA www.ck12.org
3. The gene is copied (or cloned) inside of the bacterium. As the bacterial DNA is copied, so is the vector DNA.
As the bacteria divide, the recombinant DNA molecules are divided between the new cells. Over a 12- to
24-hour period, millions of copies of the cloned DNA are made.
4. The cloned DNA can produce a protein (like insulin) that can be used in medicine or in research.
Plasmids
Bacteria have small rings of DNA in the cytoplasm, called plasmids ( Figure 4.2). When putting foreign DNA into
a bacterium, the plasmids are often used as a vector. Viruses can also be used as vectors.
FIGURE 4.2
This image shows a drawing of a plasmid.
The plasmid has two large segments and
one small segment depicted. The two
large segments (green and blue) indicate
antibiotic resistances usually used in a
screening procedure. The antibiotic resis-
tance segments ensure only bacteria with
the plasmid will grow. The small segment
(red) indicates an origin of replication.
The origin of replication is where DNA
replication starts, copying the plasmid.
Vocabulary
• clone: To make a copy.

• origin of replication: Where DNA replication starts, copying the plasmid.
• plasmid: Small ring of DNA in the cytoplasm of a bacterium.
• recombinant DNA: Combination of DNA from two different sources.
• vector: Carrier molecule for a segment of DNA.
Summary
• Recombinant DNA is the combination of DNA from two different sources.

• Gene cloning is making an exact copy of a gene.
Practice
• Stanley Cohen and Herbert Boyer at http://www.dnalc.org/view/16033-Stanley-Cohen-and-Herbert-Boyer-

1972.html
1. What bacteria were used to create the first recombinant DNA?
76
2. In the plasmid pSC101, what does the SC stand for? What gene did this plasmid carry?
3. What does DNA ligase do? How is it used in recombinant DNA technology?
4. What did Cohen and Boyer do to get a bacteria to take up the recombinant plasmid they had made?
5. Since not all of the plasmids that Cohen and Boyer created carried both genes they were seeking to transfer,
how did they isolate the bacteria that had plasmids with both genes?
Review
1. What is recombinant DNA technology?

2. Explain the process of gene cloning.
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4.3. Gene Therapy www.ck12.org
4.3 Gene Therapy
• Define gene therapy.

• Describe gene therapy.
• Distinguish in vivo gene therapy from ex vivo gene therapy.
Can doctors fix your DNA?

There are many genetic disorders that are due to a single gene. What if we could fix this faulty gene? With the
development of gene therapy, that may eventually be possible for many types of genetic disorders.
Gene Therapy
Gene therapy is the insertion of genes into a person’s cells to cure a genetic disorder. Could gene therapy be the cure
for AIDS? No, AIDS is caused by a virus. Gene therapy only works to fix disorders caused by a faulty gene. The
patient would have had this disorder from birth. Though gene therapy is still in experimental stages, the common
use of this therapy may occur during your lifetime.
There are two main types of gene therapy:
1. One done inside the body ( in vivo).

2. One done outside the body ( ex vivo).
Both types of gene therapy use a vector, or carrier molecule for the gene. The vector helps incorporate the desired
gene into the patient’s DNA. Usually this vector is modified viral DNA in which the viral genes have been removed.
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In Vivo Gene Therapy
During in vivo gene therapy, done inside the body, the vector with the gene of interest is introduced directly into
the patient and taken up by the patient’s cells ( Figure 4.3). For example, cystic fibrosis gene therapy is targeted at
the respiratory system, so a solution with the vector can be sprayed into the patient’s nose. Recently, in vivo gene
therapy was also used to partially restore the vision of three young adults with a rare type of eye disease.
FIGURE 4.3
During gene therapy, adenovirus is a pos-
sible vector to carry the desired gene and
insert it into the patient’s DNA.
In ex vivo gene therapy, done outside the body, cells are removed from the patient and the proper gene is inserted
using a virus as a vector. The modified cells are placed back into the patient.
One of the first uses of this type of gene therapy was in the treatment of a young girl with a rare genetic disease,
adenosine deaminase deficiency, or ADA deficiency. People with this disorder are missing the ADA enzyme, which
breaks down a toxin called deoxyadenosine. If the toxin is not broken down, it accumulates and destroys immune
cells. As a result, individuals with ADA deficiency do not have a healthy immune system to fight off infections. In
the gene therapy treatment for this disorder, bone marrow stem cells were taken from the girl’s body, and the missing
gene was inserted into these cells outside the body. Then the modified cells were put back into her bloodstream.
This treatment successfully restored the function of her immune system, but only with repeated treatments.
Vocabulary
• ex vivo: Performed in an artificial environment outside the living organism.

• gene therapy: Insertion of genes into a person’s cells to cure a genetic disorder.
• in vivo: Performed inside the living organism.
• vector: Carrier molecule for a segment of DNA.
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4.3. Gene Therapy www.ck12.org
Summary
• Gene therapy, the insertion of genes into a person’s cells to cure a genetic disorder, can be ex vivo (outside the
body) or in vivo (inside the body).
• Gene therapy is still in the experimental stages, but some trials have been successful.
Practice
• What is Gene Therapy? at http://learn.genetics.utah.edu/content/genetherapy/gtintro/ .

• Gene Delivery: Tools Of The Trade at http://learn.genetics.utah.edu/content/genetherapy/gttools/ .
1. What is an "ionic gradient"? How does cystic fibrosis affect the ionic gradient in cells? What effect does this
have?
2. What five questions need to be answered to determine if a disease is a good candidate for gene therapy?
3. Why would an adenovirus vector be a bad choice for treating cystic fibrosis?
4. What is a good choice for a viral vector?
Review
1. What is gene therapy?

2. Could gene therapy someday cure the common cold? Why or why not?
3. What’s the difference between ex vivo and in vivo gene therapy?
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4.4 Genetic Disorders
• Describe the genetics of common human genetic disorders.
When is a cold not just a cold?

At some point in your life, you’re bound to catch a cold. And there are ways to prevent catching a cold. But what if
you couldn’t prevent an illness? What if you were born with a disease? What if having a disease was actually due to
your DNA? These are genetic diseases, and they can be very serious.
Human Genetic Disorders
Some human genetic disorders are also X-linked or Y-linked, which means the faulty gene is carried on these sex
chromosomes. Other genetic disorders are carried on one of the other 22 pairs of chromosomes; these chromosomes
are known as autosomes or autosomal (non-sex) chromosomes.
Autosomal Recessive Disorders
Some genetic disorders are caused by recessive alleles of a single gene on an autosome. An example of an autosomal
recessive genetic disorder is cystic fibrosis. Children with cystic fibrosis have excessively thick mucus in their
lungs, which makes it difficult for them to breathe. The inheritance of this recessive allele is the same as any other
recessive allele, so a Punnett square can be used to predict the probability that two carriers of the disease will have
a child with cystic fibrosis. Recall that carriers have the recessive allele for a trait but do not express the trait. What
are the possible genotypes of the offspring in the following table ( Table 4.1)? What are the possible phenotypes?
81
TABLE 4.1: Cross Between Two Carriers for Cystic Fibrosis

F f
F FF Ff
(normal) (carrier)
f Ff ff
(carrier) (affected)
According to this Punnett square, two parents that are carriers (Ff ) of the cystic fibrosis gene have a 25% chance of
having a child with cystic fibrosis (ff ).
Automsomal Dominant Disorders
Huntington’s disease is an example of an autosomal dominant disorder. This means that if the dominant allele is
present, then the person will express the disease.
The disease causes the brain’s cells to break down, leading to muscle spasms and personality changes. Unlike most
other genetic disorders, the symptoms usually do not become apparent until middle age. You can use a simple
Punnett square to predict the inheritance of a dominant autosomal disorder, like Huntington’s disease. If one parent
has Huntington’s disease, what is the chance of passing it on to the children? If you draw the Punnett square, you
will find that there is a 50 percent chance of the disorder being passed on to the children.
Vocabulary
• autosomal dominant genetic disorder: Caused by dominant alleles of a single gene on an autosome.
• autosomal recessive genetic disorder: Caused by recessive alleles of a single gene on an autosome.
• autosome: Any chromosome that is not a sex chromosome.
• carrier: Person that carries the recessive allele for a trait but does not express the trait.
• cystic fibrosis: Autosomal recessive genetic disorder characterized by excessively thick mucus in the lungs.
• Huntington’s disease: Autosomal dominant genetic disorder characterized by muscle spasms and personality
changes.
Summary
• Autosomal recessive genetic disorders, such as cystic fibrosis, are caused by recessive alleles of a single gene
on an autosome.
• Autosomal dominant genetic disorders, such as Huntington’s disease, are caused by dominant alleles of a
single gene on an autosome.
Practice
• What are Genetic Disorders? at http://learn.genetics.utah.edu/content/disorders/
1. What are multifactorial disorders? What is an example of a multifactorial disorder?

2. What are single-gene disorders? What is an example of a single-gene disorder?
3. What causes galactosemia? How is it diagnosed? How is it treated?
4. What causes Colon Cancer? What is a tumor suppressor gene?
5. What is newborn genetic screening? How is it carried out?
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Review
1. Can you be a carrier of an autosomal recessive genetic disorder?

2. Can you be a carrier of an autosomal dominant genetic disorder?
3. One parent is a carrier of the cystic fibrosis gene, while the other parent does not carry the allele. Can their
child have cystic fibrosis?
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4.5. Genetic Linkage www.ck12.org
4.5 Genetic Linkage
• Explain linked genes and sex-linked genes.

• Summarize the relationship between linkage and crossing-over.
• Explain linkage and linkage maps.
What does it mean to be linked?

For a pair of hands, the above image may suggest a certain type of linkage. For genes, it might suggest that they are
very hard to separate.
Linkage
Genes that are located on the same chromosome are called linked genes. Alleles for these genes tend to segregate
together during meiosis, unless they are separated by crossing-over. Crossing-over occurs when two homologous
chromosomes exchange genetic material during meiosis I. The closer together two genes are on a chromosome,
the less likely their alleles will be separated by crossing-over. At the following link, you can watch an animation
showing how genes on the same chromosome may be separated by crossing-over: http://www.biostudio.com/d_%
20Meiotic%20Recombination%20Between%20Linked%20Genes.htm .
Linkage explains why certain characteristics are frequently inherited together. For example, genes for hair color and
eye color are linked, so certain hair and eye colors tend to be inherited together, such as blonde hair with blue eyes
and brown hair with brown eyes. What other human traits seem to occur together? Do you think they might be
controlled by linked genes?
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Sex-Linked Genes
Genes located on the sex chromosomes are called sex-linked genes. Most sex-linked genes are on the X chro-
mosome, because the Y chromosome has relatively few genes. Strictly speaking, genes on the X chromosome are
X-linked genes, but the term sex-linked is often used to refer to them.
Sex-linked traits are discussed at http://www.youtube.com/watch?v=-ROhfKyxgCo (14:19).
MEDIA
Mapping Linkage
Linkage can be assessed by determining how often crossing-over occurs between two genes on the same chromo-
some. Genes on different (nonhomologous) chromosomes are not linked. They assort independently during meiosis,
so they have a 50 percent chance of ending up in different gametes. If genes show up in different gametes less than
50 percent of the time (that is, they tend to be inherited together), they are assumed to be on the same (homologous)
chromosome. They may be separated by crossing-over, but this is likely to occur less than 50 percent of the time.
The lower the frequency of crossing-over, the closer together on the same chromosome the genes are presumed to
be. Frequencies of crossing-over can be used to construct a linkage map like the one in Figure 4.4. A linkage map
shows the locations of genes on a chromosome.
FIGURE 4.4
Linkage Map for the Human X Chromosome. This linkage map shows
the locations of several genes on the X chromosome. Some of the genes
code for normal proteins. Others code for abnormal proteins that lead to
genetic disorders. Which pair of genes would you expect to have a lower
frequency of crossing-over: the genes that code for hemophilia A and
G6PD deficiency, or the genes that code for protan and Xm?
Summary
• Linked genes are located on the same chromosome.

• Sex-linked genes are located on a sex chromosome, and X-linked genes are located on the X chromosome.
• The frequency of crossing-over between genes is used to construct linkage maps that show the locations of
genes on chromosomes.
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4.5. Genetic Linkage www.ck12.org
Practice I
• http://www.hippocampus.org/Biology → Biology for AP* → Search: The Chromosome Theory
1. Who was Thomas Hunt Morgan?

2. Why must each chromosome contain many genes?
3. What are linked genes?
4. Describe the the relationship between cross-over events and linked genes.
5. Define recombination.
6. Why did Mendel not observe cross-over offspring?
7. What is a linkage map?
Practice II
• T. H. Morgan at http://www.dnalc.org/resources/nobel/morgan.html .
Review
1. What are linked genes?

2. Explain how you would construct a linkage map for a human chromosome. What data would you need?
3. People with red hair usually have very light skin. What might be a genetic explanation for this observation?
4. How often does crossing-over occur between non-linked genes? Explain your answer.
86
4.6 Mutation Effects
• Describe beneficial mutations.

• Give examples of harmful mutations.
Is this rat hairless?

Yes. Why? The result of a mutation, a change in the DNA sequence. The effects of mutations can vary widely, from
being beneficial, to having no effect, to having lethal consequences, and every possibility in between.
Effects of Mutations
The majority of mutations have neither negative nor positive effects on the organism in which they occur. These
mutations are called neutral mutations. Examples include silent point mutations. They are neutral because they do
not change the amino acids in the proteins they encode.
Many other mutations have no effect on the organism because they are repaired before protein synthesis occurs.
Cells have multiple repair mechanisms to fix mutations in DNA. One way DNA can be repaired is illustrated in
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4.6. Mutation Effects www.ck12.org
Figure 4.5. If a cell’s DNA is permanently damaged and cannot be repaired, the cell is likely to be prevented from
dividing.
FIGURE 4.5
DNA Repair Pathway. This flow chart
shows one way that damaged DNA is
repaired in E. coli bacteria.
Beneficial Mutations
Some mutations have a positive effect on the organism in which they occur. They are called beneficial mutations.
They lead to new versions of proteins that help organisms adapt to changes in their environment. Beneficial mutations
are essential for evolution to occur. They increase an organism’s changes of surviving or reproducing, so they are
likely to become more common over time. There are several well-known examples of beneficial mutations. Here are
just two:
1. Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs. The mutations lead
to antibiotic-resistant strains of bacteria.
2. A unique mutation is found in people in a small town in Italy. The mutation protects them from developing
atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels. The individual in which
the mutation first appeared has even been identified.
Harmful Mutations
Imagine making a random change in a complicated machine such as a car engine. The chance that the random
change would improve the functioning of the car is very small. The change is far more likely to result in a car that
does not run well or perhaps does not run at all. By the same token, any random change in a gene’s DNA is likely to
result in a protein that does not function normally or may not function at all. Such mutations are likely to be harmful.
Harmful mutations may cause genetic disorders or cancer.
• A genetic disorder is a disease caused by a mutation in one or a few genes. A human example is cystic
fibrosis. A mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and
blocks ducts in digestive organs. You can watch a video about cystic fibrosis and other genetic disorders at
this link: http://www.youtube.com/watch?v=8s4he3wLgkM (9:31).
88
• Cancer is a disease in which cells grow out of control and form abnormal masses of cells. It is generally caused
by mutations in genes that regulate the cell cycle. Because of the mutations, cells with damaged DNA are
allowed to divide without limits. Cancer genes can be inherited. You can learn more about hereditary cancer
by watching the video at the following link: http://www.youtube.com/watch?v=LWk5FplsKwM (4:29)
Albino Redwoods, Ghosts of the Forest
What happens if a plant does not have chlorophyll? They would lack the part of the leaf that makes them green.
So these plants could be referred to as albino. This would have to result from a genetic mutation. Do these plants
die because they cannot photosynthesize? Not necessarily. What can these plants tell us about the biochemistry,
genetics and physiology of plants?
See Science on the SPOT: Albino Redwoods, Ghosts of the Forest at http://science.kqed.org/quest/video/science-
on-the-spot-albino-redwoods-ghosts-of-the-forest/ , Science on the SPOT: Revisiting Albino Redwoods, Biological
Mystery at http://science.kqed.org/quest/video/science-on-the-spot-revisiting-albino-redwoods-biological-mystery/ ,
and Science on the SPOT: Revisiting Albino Redwoods, Cracking the Code at http://science.kqed.org/quest/video/
science-on-the-spot-revisiting-albino-redwoods-cracking-the-code/ for more information.
MEDIA
MEDIA
MEDIA
Summary
• Mutations are essential for evolution to occur because they increase genetic variation and the potential for
individuals to differ.
• The majority of mutations are neutral in their effects on the organisms in which they occur.
• Beneficial mutations may become more common through natural selection.
• Harmful mutations may cause genetic disorders or cancer.
89
4.6. Mutation Effects www.ck12.org
Making Connections
MEDIA
Practice I
Use these resources to answer the questions that follow.
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: Genetic Disorders
1. Define genetic disorders.

2. What are the two primary types of genetic aberrations?
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: Gene Defects
1. What are the results of a mutation or defect in a single gene?

2. Describe the causes and effects of cystic fibrosis, Huntington’s Disease, and hemophilia.
• http://www.hippocampus.org/Biology → Non-Majors Biology → Search: Chromosomal Abnormalities
1. What is a chromosomal disorder?

2. When and how do chromosomal errors occur?
3. Describe Cri-du-chat Syndrome and Down Syndrome.
Practice II
• Test Neurofibromin Activity in a Cell at http://learn.genetics.utah.edu/content/begin/dna/neurofibromin/ .
Review
1. Why are mutations essential for evolution to occur?

2. What is a genetic disorder?
3. What is cancer? What usually causes cancer?
90
4.7 Mutation Causes
• Define mutagen.
• Identify causes of mutation.
• Give examples of spontaneous mutations.
What does radiation contamination do?

It mutates DNA. The Chernobyl disaster was a nuclear accident that occurred on April 26, 1986. It is considered the
worst nuclear power plant accident in history. A Russian publication concludes that 985,000 excess cancers occurred
between 1986 and 2004 as a result of radioactive contamination. The 2011 report of the European Committee on
Radiation Risk calculates a total of 1.4 million excess cancers occurred as a result of this contamination.
Causes of Mutation
Mutations have many possible causes. Some mutations seem to happen spontaneously without any outside influ-
ence. They can occur when mistakes are made during DNA replication or transcription. Other mutations are caused
by environmental factors. Anything in the environment that can cause a mutation is known as a mutagen. Examples
of mutagens are pictured in Figure 4.6. For a video about mutagens, go the link below. http://www.youtube.com/w
atch?v=0wrNxCGKCws (0:36)
Spontaneous Mutations
There are five common types of spontaneous mutations. These are described in the Table 4.2.
91
4.7. Mutation Causes www.ck12.org
FIGURE 4.6
Examples of Mutagens. Types of mu-
tagens include radiation, chemicals, and
infectious agents. Do you know of other
examples of each type of mutagen shown
here?
TABLE 4.2: Common Spontaneous Mutations

Mutation Description
Tautomerism a base is changed by the repositioning of a hydrogen
atom
Depurination loss of a purine base (A or G)
Deamination spontaneous deamination of 5-methycytosine
Transition a purine to purine (A to G, G to A), or a pyrimidine to
pyrimidine (C to T, T to C) change
Transversion a purine becomes a pyrimidine, or vice versa
The Chernobyl Disaster: Follow-up
Though the area immediately around the Chernobyl disaster may not be safe for human life for thousands of years,
the Exclusion Zone around the Chernobyl nuclear power station has become a haven for wildlife. As humans were
evacuated from the area 25 years ago, existing animal populations multiplied and rare species not seen for centuries
have returned or have been reintroduced, for example lynx, wild boar, wolf, Eurasian brown bear, European bison,
Przewalski’s horse, and eagle owl. Birds nest inside the cracked concrete sarcophagus shielding in the shattered
remains of the nuclear reactor. The Exclusion Zone is so lush with wildlife and greenery that in 2007 the Ukrainian
government designated it a wildlife sanctuary. It is now one of the largest wildlife sanctuaries in Europe.
Summary
• Mutations are caused by environmental factors known as mutagens.

• Types of mutagens include radiation, chemicals, and infectious agents.
• Mutations may be spontaneous in nature.
92
Making Connections
Review
1. Define mutation and mutagen.

2. List three examples of mutagens.
3. Distinguish between a transition and a transversion.
93
4.8. Eukaryotic Gene Regulation www.ck12.org
4.8 Eukaryotic Gene Regulation
• Describe gene regulation in eukaryotic cells.

• Explain the role of the TATA box.
• Describe the role of homeobox genes.
• Summarize the issues associated with tumor-suppressor genes and proto-oncogenes.
On or Off? On or Off? On or Off?

That is the key question. Gene regulation in eukaryotes is a highly regulated process usually involving many proteins,
which either bind to each other or bind to the DNA.
Eukaryotic Gene Regulation
In eukaryotic cells, the start of transcription is one of the most complicated parts of gene regulation. There may be
many regulatory proteins and regulatory elements involved. Regulation may also involve enhancers. Enhancers are
distant regions of DNA that can loop back to interact with a gene’s promoter.
The TATA Box
Different types of cells have unique patterns of regulatory elements that result in only the necessary genes being
transcribed. That’s why a skin cell and nerve cell, for example, are so different from each other. However, some
patterns of regulatory elements are common to all genes, regardless of the cells in which they occur. An example is
the TATA box, so named because it has a core sequence of TATAAA. This is a regulatory element that is part of the
promoter of most eukaryotic genes. A number of regulatory proteins bind to the TATA box, forming a multi-protein
94
complex. It is only when all of the appropriate proteins are bound to the TATA box that RNA polymerase recognizes
the complex and binds to the promoter. Once RNA polymerase binds, transcription begins. To see a video showing
the role of the TATA box in the initiation of transcription, go to this link: http://www.youtube.com/watch?v=6tqPs
I-9aQA .
Regulation During Development
The regulation of gene expression is extremely important during the development of an organism. Regulatory
proteins must turn on certain genes in particular cells at just the right time so the organism develops normal organs
and organ systems. Homeobox genes are an example of genes that regulate development. They code for regulatory
proteins that switch on whole series of major developmental genes. In insects, homeobox genes called hox genes
ensure that body parts such as limbs develop in the correct place. Figure 4.7 shows how a mutation in a hox gene
can affect an insect’s development. Other organisms, including humans, also have how genes. You can learn more
about homeobox genes at this link: http://www.youtube.com/watch?v=LFG-aLidT8s .
FIGURE 4.7
Effect of Hox Gene Mutation. Scientists
caused a mutation in a hox gene of this
fruit fly. As a result of the mutation, a leg
grew out of its head where an antenna
should have developed.
Gene Expression and Cancer
The mutations that cause cancer generally occur in two types of regulatory genes: tumor-suppressor genes and
proto-oncogenes (see Figure 4.8). These genes produce regulatory proteins that control the cell cycle. When the
genes mutate, cells with mutations divide rapidly and without limits, potentially resulting in a tumor and cancer.
95
4.8. Eukaryotic Gene Regulation www.ck12.org
FIGURE 4.8
How Cancer Develops. This flow chart
shows how a series of mutations in tumor-
suppressor genes and proto-oncogenes
leads to cancer.
Summary
• Regulation of transcription in eukaryotes is generally more complex than in prokaryotes. It involves unique
regulatory elements in different cells as well as common regulatory elements such as the TATA box.
• Regulation is especially important during development. It may involve regulatory genes such as homeobox
genes that switch other regulatory genes on or off.
• Mutations in regulatory genes that normally control the cell cycle cause cancer.
Practice
96
• Master genes control basic body plans at http://www.dnalc.org/resources/nobel/lewis_nauulein_wieschau

s.html .
1. How were genes that control early embryonic development identified?

2. Describe the polarity of the fertilized egg, as it relates to protein expression.
3. What does "segmentation" refer to in the developing fly?
4. What is a gap mutant?
5. Describe the antennapedia mutant.
6. What is a homeobox gene? A hox gene?
Review
1. Identify the TATA box and its function in transcription.

2. What is a homeobox gene?
3. Why is gene regulation especially important during development?
4. What are tumor-suppressor genes and proto-oncogenes?
5. Sketch how an insect with a mutated hox gene might look. Explain your sketch.
97
4.9. Carcinogens and Cancer www.ck12.org
4.9 Carcinogens and Cancer
• Describe how carcinogens cause cancer and how cancer can be treated or prevented.
What’s the worst thing you can do to hurt your health?

Besides pathogens, many other dangers in the environment may negatively affect human health. For example, air
pollution can cause lung cancer. It can also make asthma and other diseases worse. Bioterrorism is another potential
threat in the environment. It may poison large numbers of people or cause epidemics of deadly diseases. But the
worst thing you can do to yourself is smoke cigarettes.
Carcinogens and Cancer
A carcinogen is anything that can cause cancer. Cancer is a disease in which cells divide out of control. Most
carcinogens cause cancer by producing mutations in DNA.
Types of Carcinogens
There are several different types of carcinogens. They include pathogens, radiation, and chemicals. Some carcino-
gens occur naturally. Others are produced by human actions.
• Viruses cause about 15 percent of all human cancers. For example, the virus called hepatitis B causes liver
cancer.
• UV radiation is the leading cause of skin cancer. The radioactive gas known as radon causes lung cancer.
• Tobacco smoke contains dozens of carcinogens, including nicotine and formaldehyde. Exposure to tobacco
smoke is the leading cause of lung cancer.
98
• Some chemicals that were previously added to foods, such as certain dyes, are now known to cause cancer.
Cooking foods at very high temperatures also causes carcinogens to form (see Figure 4.9).
FIGURE 4.9
Barbecued foods are cooked at very high temperatures. This may cause
carcinogens to form.
How Cancer Occurs
Mutations that lead to cancer usually occur in genes that control the cell cycle. These include tumor-suppressor
genes and proto-oncogenes.
• Tumor-suppressor genes normally prevent cells with damaged DNA from dividing. Mutations in these genes
prevent them from functioning normally. As a result, cells with damaged DNA are allowed to divide.
• Proto-oncogenes normally help control cell division. Mutations in these genes turn them into oncogenes.
Oncogenes promote the division of cells with damaged DNA.
Cells that divide uncontrollably may form a tumor, or abnormal mass of cells. Tumors may be benign or malignant.
Benign tumors remain localized and generally do not harm health. Malignant tumors are cancerous. There are no
limits to their growth, so they can invade and damage neighboring tissues. Cells from malignant tumors may also
break away from the tumor and enter the bloodstream. They are carried to other parts of the body, where new tumors
may form. The most common and the most deadly cancers for U.S. adults are listed in Table 4.3.
TABLE 4.3: Cancers in U.S. Adults

Gender Most Common Types of Cancer Most Common Causes of Cancer
after Skin Cancer (% of all can- Deaths (% of all cancer deaths)
cers)
Males prostate cancer (33%), lung cancer lung cancer (31%), prostate cancer
(13%) (10%)
Females breast cancer (32%), lung cancer lung cancer (27%), breast cancer
(12%) (15%)
More cancer deaths in adult males and females are due to lung cancer than any other type of cancer. Lung cancer
is most often caused by exposure to tobacco smoke. What might explain why lung cancer causes the most cancer
deaths when it isn’t the most common type of cancer?
Cancer Treatment and Prevention
Most cancers can be treated, and some can be cured. The general goal of treatment is to remove the tumor without
damaging other cells. A cancer patient is typically treated in more than one way. Possible treatments include surgery,
drugs ( chemotherapy), and radiation. Early diagnosis and treatment of cancer lead to the best chance for survival.
That’s why it’s important to know the following warning signs of cancer:
99
4.9. Carcinogens and Cancer www.ck12.org
• change in bowel or bladder habits

• sore that does not heal
• unusual bleeding or discharge
• lump in the breast or elsewhere
• chronic indigestion or difficulty swallowing
• obvious changes in a wart or mole
• persistent coughing or hoarseness
Having one or more warning signs does not mean you have cancer, but you should see a doctor to be sure. Getting
routine tests for particular cancers can also help detect cancers early, when chances of a cure are greatest. For
example, getting the skin checked regularly by a dermatologist is important for early detection of skin cancer (see
Figure 4.10).
FIGURE 4.10
Regular checkups with a dermatologist
can detect skin cancers early. Why is
early detection important?
You can take steps to reduce your own risk of cancer. For example, you can avoid exposure to carcinogens such
as tobacco smoke and UV light. You can also follow a healthy lifestyle. Being active, eating a low-fat diet, and
maintaining a normal weight can help reduce your risk of cancer.
Summary
• A carcinogen is anything that causes cancer.

• Most carcinogens produce mutations in genes that control the cell cycle.
Practice
• Living things share common genes at http://www.dnalc.org/resources/nobel/bishop_varmus.html .
1. What is the genetic difference between a retrovirus and a cancer-causing retrovirus?

2. Which species have the src gene?
3. Was src originally a chicken gene or a viral gene?
4. How does the src gene cause cancer?
100
Review
1. What is a carcinogen?
2. How do most carcinogens cause cancer?
3. Identify three ways cancer can be treated.
4. List four warning signs of cancer.
5. What might explain why lung cancer causes the most cancer deaths when it isn’t the most common type of cancer?
101
4.10. Cancer www.ck12.org
4.10 Cancer
• Describe causes and treatments of cancer.
Why is tanning bad for your health?

It might be fun to lay out in the sun like these two girls are doing. But getting too much sun can be very dangerous.
Overexposure to sunlight raises your risk for skin cancer.
Cancer
Cancer is a disease that causes cells to divide out of control. Normally, the body has systems that prevent cells
from dividing out of control. But in the case of cancer, these systems fail. Cancer is usually caused by mutations.
Mutations are random errors in genes. Mutations that lead to cancer usually happen to genes that control the cell
cycle. Because of the mutations, abnormal cells divide uncontrollably. This often leads to the development of a
tumor. A tumor is a mass of abnormal tissue. As a tumor grows, it may harm normal tissues around it. Anything
that can cause cancer is called a carcinogen. Carcinogens may be pathogens, chemicals, or radiation.
Pathogens
Pathogens that cause cancer include the human papilloma virus (HPV) ( Figure 4.11) and the hepatitis B virus. HPV
is spread through sexual contact. It can cause cancer of the reproductive system in females. The hepatitis B virus is
spread through sexual contact or contact with blood containing the virus. It can cause cancer of the liver.
102
FIGURE 4.11
The mutations that cause cancer may occur when people are exposed
to pathogens, such as the human papilloma virus (HPV), which is shown
here.
Chemicals
Many different chemical substances cause cancer. Dozens of chemicals in tobacco smoke, including nicotine, have
been shown to cause cancer ( Figure 4.12). In fact, tobacco smoke is one of the main sources of chemical carcino-
gens. Smoking tobacco increases the risk of cancer of the lung, mouth, throat, and bladder. Using smokeless tobacco
can also cause cancer. Other chemicals that cause cancer include asbestos, formaldehyde, benzene, cadmium, and
nickel.
FIGURE 4.12
The mutations that cause cancer may oc-
cur when people are exposed to chemical
carcinogens, such as those in cigarettes.
Radiation
Forms of radiation that cause cancer include ultraviolet (UV) radiation and radon ( Figure 4.13). UV radiation is
part of sunlight. It is the leading cause of skin cancer. Radon is a natural radioactive gas that seeps into buildings
from the ground. It can cause lung cancer.
103
FIGURE 4.13
The mutations that cause cancer may oc-
cur when people are exposed to radiation,
including the radiation from sunlight.
Common Types of Cancer
Cancer is usually found in adults, especially in adults over the age of 50. The most common type of cancer in adult
males is cancer of the prostate gland. The prostate gland is part of the male reproductive system. Prostate cancer
makes up about one third of all cancers in men. The most common type of cancer in adult females is breast cancer. It
makes up about one third of all cancers in women. In both men and women, lung cancer is the second most common
type of cancer. Most cases of lung cancer happen in people who smoke.
Cancer can also be found in children. But childhood cancer is rare. Leukemia is the main type of cancer in children.
It makes up about one third of all childhood cancers. It happens when the body makes abnormal white blood cells.
Sometimes cancer cells break away from a tumor. If they enter the bloodstream, they are carried throughout the
body. Then, the cells may start growing in other tissues. This is usually how cancer spreads from one part of the
body to another. Once this happens, cancer is very hard to stop or control.
Treating Cancer
If leukemia is treated early, it usually can be cured. In fact, many cancers can be cured, which is known as remission,
if treated early. Treatment of cancer often involves removing a tumor with surgery. This may be followed by other
types of treatments. These treatments may include drugs (known as chemotherapy) and radiation therapy, which kill
cancer cells.
104
The sooner cancer is treated, the greater the chances of a cure. This is why it is important to know the warning signs
of cancer. Having warning signs does not mean that you have cancer. However, you should see a doctor to be sure.
Everyone should know the warning signs of cancer. Detecting and treating cancer early can often lead to a cure.
Some warning signs of cancer include:
• Change in bowel or bladder habits.

• Sores that do not heal.
• Unusual bleeding or discharge.
• Lump in the breast or elsewhere.
• Chronic indigestion.
• Difficulty swallowing.
• Obvious changes in a wart or mole.
• Persistent cough or hoarseness.
Vocabulary
• cancer: Disease that causes cells to divide out of control.

• carcinogen: Substance that can cause cancer.
• mutations: Random errors in genes.
• radon: Natural radioactive gas that seeps into buildings from the ground and can cause cancer.
• tumor: Abnormal mass of tissue.
• UV radiation: Invisible radiation that is a part of sunlight.
Summary
• Cancer is caused by mutations, which can be caused by pathogens, chemicals, or radiation.

• Cancer can be treated with surgery, drugs, and radiation.
Practice
Practice I
• How Cancer Cells Grow and Divide at http://www.teachersdomain.org/asset/tdc02_vid_oncogene/
1. What is an oncogene?
2. How do receptors made by oncogenes differ from "normal" receptor cells?
3. How does cancer spread through the blood stream?
Practice II
• How Cancer Grows and Spreads at http://www.pbs.org/wgbh/nova/body/how-cancer-grows.html
1. How are genetic mutations thought to affect the formation of cancer? What is the result of this process?
2. Cancer cells continuously divide. How does this affect the mutation rates of the cells?
3. What is angiogenesis? How does this help cancer spread?
105
Review
1. Define carcinogen and give three examples.

2. Explain how mutations can lead to cancer.
3. What type of cancers are associated with chemicals in cigarettes?
4. What type of cancer may be caused by UV radiation?
5. List four signs of cancer.
106
4.11 Ethical, Legal, and Social Issues of

Biotechnology
• Identify ethical, legal, and social issues raised by biotechnology.
Right or wrong? Good or bad? Legal or illegal?

The completion of The Human Genome Project is one of the most important scientific events of the past 50 years.
However, is knowing all of our DNA a good thing? The advancement of biotechnology has raised many interesting
ethical, legal and social questions.
Ethical, Legal, and Social Issues
Imagine someone analyzes part of your DNA. Who controls that information? What if your health insurance
company found out you were predisposed to develop a devastating genetic disease. Might they decide to cancel
your insurance? Privacy issues concerning genetic information is an important issue in this day and age.
ELSI stands for Ethical, Legal and Social Issues. It’s a term associated with the Human Genome project. This
project didn’t only have the goal to identify all the genes in the human genome, but also to address the ELSI that
might arise from the project. Rapid advances in DNA-based research, human genetics, and their applications have
resulted in new and complex ethical and legal issues for society.
Concerns from Biotechnology
The use of biotechnology has raised a number of ethical, legal, and social issues. Here are just a few:
107
4.11. Ethical, Legal, and Social Issues of Biotechnology www.ck12.org
• Who owns genetically modified organisms such as bacteria? Can such organisms be patented like inventions?
• Are genetically modified foods safe to eat? Might they have unknown harmful effects on the people who
consume them?
• Are genetically engineered crops safe for the environment? Might they harm other organisms or even entire
ecosystems?
• Who controls a person’s genetic information? What safeguards ensure that the information is kept private?
• How far should we go to ensure that children are free of mutations? Should a pregnancy be ended if the fetus
has a mutation for a serious genetic disorder?
Addressing such issues is beyond the scope of this concept. The following example shows how complex the issues
may be:
A strain of corn has been created with a gene that encodes a natural pesticide. On the positive side, the transgenic
corn is not eaten by insects, so there is more corn for people to eat. The corn also doesn’t need to be sprayed with
chemical pesticides, which can harm people and other living things. On the negative side, the transgenic corn has
been shown to cross-pollinate nearby milkweed plants. Offspring of the cross-pollinated milkweed plants are now
known to be toxic to monarch butterfly caterpillars that depend on them for food. Scientists are concerned that this
may threaten the monarch species as well as other species that normally eat monarchs.
As this example shows, the pros of biotechnology may be obvious, but the cons may not be known until it is too
late. Unforeseen harm may be done to people, other species, and entire ecosystems. No doubt the ethical, legal, and
social issues raised by biotechnology will be debated for decades to come. For a recent debate about the ethics of
applying biotechnology to humans, watch the video at the link below. In the video, a Harvard University professor
of government and a Princeton University professor of bioethics debate the science of “perfecting humans.” http://w
ww.youtube.com/watch?v=-BPna-fSNOE
Summary
• Biotechnology has raised a number of ethical, legal, and social issues. For example, are genetically modified
foods safe to eat, and who controls a person’s genetic information?
Practice
• http://www.hippocampus.org/Biology → Biology for AP* → Search: Practical and Ethical Concerns
1. What are two concerns associated with biotechnology?

2. Why could genetically engineered plants replace naturally grown plants?
3. What is cloning? What was the first cloned large mammal?
4. What are two ethical considerations associated with the human genome sequence?
Review
1. Identify three ethical, legal, or social issues raised by biotechnology.

2. State your view on an ELSI issue, and develop a logical argument to support your view.
108
4.12 References
1. National Human Genome Research Institute. Karyotype of human chromosomes. Public Domain
2. Sam McCabe. Drawing of a plasmid, a DNA loop inside a bacteria. CC BY-NC 3.0
3. Courtesy of the National Institutes of Health. Diagram of in vivo gene therapy using an adenovirus. Public
Domain
4. Sam McCabe. Linkage map for the human X chromosome. CC BY-NC 3.0
5. Hana Zavadska. DNA repair pathway. CC BY-NC 3.0
6. Laura Guerin. Examples of mutagens. CC BY-NC 3.0
7. User:Ktbn/Wikimedia Commons. Effect of Hox gene mutation in fruit fly. Public Domain
8. Mariana Ruiz Villarreal (LadyofHats) for CK-12 Foundation. Flowchart of how cancer develops. CC BY-NC
3.0
9. Basheer Tome. Barbecued foods. CC BY 2.0
10. Image copyright Blaj Gabriel, 2014. Dermatologist appointment. Used under license from Shutterstock.com
11. Courtesy of the National Institutes of Health (NIH). The human papilloma virus can cause cancer. Public
Domain
12. Courtesy of the CDC/Debora Cartagena. Cigarettes are a major source of chemical carcinogens. Public
Domain
13. Zachary Wilson. . CC BY-NC 3.0
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2 Heredity and Genetics 15

4 Genetic Alteration on Living Things 71

1.1 Cell Cycle

• Define the cell cycle.

What is a cell’s life like?

The Cell Cycle

The Eukaryotic Cell Cycle

Control of the Cell Cycle

• The S checkpoint determines if the DNA has been replicated properly.

Cancer and the Cell Cycle

Use this resource to answer the questions that follow.

• http://www.hippocampus.org/Biology → Biology for AP* → Search: The Cell Cycle

1. Identify the phases of the eukaryotic cell cycle.

1.2 Mitosis and Cytokinesis

• Explain the importance of mitosis.

How is your DNA organized?

Mitosis and Chromosomes

Four Phases of Mitosis

• The DNA in the nucleus wraps around proteins to form chromosomes.

Use the resource below to answer the questions that follow.

• Mitosis by NDSU VCell Productions at http://www.youtube.com/watch?v=C6hn3sA0ip0 (6:10)

1. What are chromosomes?

1.3 Mitosis vs. Meiosis

• Distinguish between mitosis and meiosis.

Mitosis vs. Meiosis

Mitosis, meiosis, and sexual reproduction are discussed at http://www.youtube.com/watch?v=kaSIjIzAtYA (18:23).

TABLE 1.1: Mitosis vs. Meiosis: A Comparison

• diploid: Having two sets of chromosomes; 2n.

Use the resources below to answer the questions that follow.

• Mitosis and Meiosis Simulation at http://www.youtube.com/watch?v=zGVBAHAsjJM (11:53)

1. What are homologous chromosomes?

• How Cells Divide at http://www.pbs.org/wgbh/nova/body/how-cells-divide.html

1. What is the goal of mitosis? Of meiosis?

2.1 Mendel’s Laws and Genetics

• Distinguish between dominant and recessive traits.

What does it mean to be dominant?

The Law of Segregation

Use the resource below to answer the questions that follow.

• Mendel’s Experiment at http://www.mendel-museum.com/experiment/animation.htm

1. What is the difference between a dominant trait and a recessive trait?

2.2 Mendel’s Pea Plants

• Summarize the importance of Gregor Mendel to genetics.

Why do you look like your family?

Mendel’s First Experiment

Use the resource below to answer the questions that follow.

• Pea experiment at http://www.sonic.net/~nbs/projects/anthro201/exper/

1. What is a "simple" trait?

2.3 Modern Genetics

Did Mendel know about DNA?

Traits, Genes, and Alleles

to individual. These variants of genes are called alleles.

Genotype and Phenotype

TABLE 2.1: Genotypes

• allele: Variant of genes.