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Chapter 14: Mendel and the Gene Idea

If you have completed a first-year high school biology course, some of this
chapter will serve as a review for the basic concepts of Mendelian genetics.
For other students, this may be your first exposure to genetics. In either
case, this is a chapter that should be carefully mastered. Spending some time with
this chapter, especially working genetics problems, will give you a solid foundation
for the extensive genetics unit in the chapters to come.


In the 1800s the most widely favored explanation of genetics was

blending. Explain the concept of blending, and then describe how
Mendels particulate (gene) theory was different.
The blending hypothesis is the idea that genetic material from the
two parents blends together (like blue and yellow paint blend to make
The particulate hypothesis is the idea that parents pass on discrete
heritable units (genes)
Mendel documented a particulate mechanism through his experiments
with garden peas

Concept 14.1 Mendel used the scientific approach to identify two laws
of inheritance

One of the keys to success for Mendel was using pea plants. Explain how
using pea plants allowed Mendel to control mating; that is, how did this
approach let Mendel be positive about the exact characteristics of each

Advantages of pea plants for genetic study:

1. There are many varieties with distinct heritable features, or characters (such
as flower color); character variants (such as purple or white flowers) are
called traits;
2. Mating of plants can be controlled;
3. Each pea plant has sperm-producing organs (stamens) and egg-producing organs
(carpels); and
4. Cross-pollination (fertilization between different plants) can be achieved by
dusting one plant with pollen from another

Define the following terms. Then, consider your own
generation would your Moms grandparents be? Your Mom? You?



P generation: Moms grandparents

F1 generation: Your Mom
F2 generation: You

Explain how Mendels simple cross of purple and white flowers did the following:

1. Refuted blending: Each purple and white flower were distinct;

2. Determined dominant and recessive characteristics: F2, 705 purple-flowered
plants and 224 white-flowered plants.
3. Demonstrated the merit of experiments that covered multiple generations:
We are able see the outcome generationally and over time.
Alternate versions of the same gene, like purple and white flower
color, are termed
These alternative versions of a gene are now called alleles

The first concept is that alternative versions of genes account for variations in
inherited characters
For example, the gene for flower color in pea plants exists in two versions, one
for purple flowers and the other for white flowers
These alternative versions of a gene are now called alleles

On the figure at below, label the allele for both purple and white flower
color, a homologous pair, and the locus of the flower color gene.


In sexually reproducing organisms, why are there exactly two chromosomes in

each homologue?.
Each gene resides at a specific locus on a specific chromosome
Mendel made this deduction without knowing about the role of chromosomes
The two alleles at a locus on a chromosome may be identical, as in the truebreeding plants of Mendels P generation
Alternatively, the two alleles at a locus may differ, as in the F 1 hybrids

Mendels model consists of four concepts. Describe each concept in the

appropriate space below. Indicate which of the concepts can be observed during
meiosis by placing an asterisk by the concept.
Mendels Four
Description of Concepts
1st Concept
The first concept is that alternative versions of genes account for
variations in inherited characters
2 Concept
The second concept is that for each character an organism
inherits two alleles, one from each parent

3rd Concept

4th Concept
Law of


The third concept is that if the two alleles at a locus differ,

then one (the dominant allele) determines the organisms
appearance, and the other (the recessive allele) has no noticeable
effect on appearance
The fourth concept, now known as the law of segregation, states
that the two alleles for a heritable character separate
(segregate) during gamete formation and end up in different

Using Figure 14.5 as your guide, provide the missing notations for the figure

below. (P, F1, F2).

a. What is the F2 phenotypic and genotypic ratio? 3:1

b. Which generation is completely heterozygous? F2

c. Which generation has both heterozygous and homozygous offspring? F2

In pea plants, T is the allele for tall plants, while t is the allele for dwarf
plants. If you have a tall plant, demonstrate with a test cross how could it
be determined if the plant is homozygous tall or heterozygous tall.
Such an individual must have one dominant allele, but the individual could be
either homozygous dominant or heterozygous

The answer is to carry out a testcross: breeding the mystery individual with a
homozygous recessive individual
If any offspring display the recessive phenotype, the mystery parent must be

Explain the difference between a monohybrid (one character) cross and a

dihybrid cross (two characters).
Mendel derived the law of segregation by following a single character
The F1 offspring produced in this cross were monohybrids, individuals that are
heterozygous for one character
A cross between such heterozygotes is called a monohybrid cross

Mendel identified his second law of inheritance by following two characters at the
same time
Crossing two true-breeding parents differing in two characters produces dihybrids
in the F1 generation, heterozygous for both characters
A dihybrid cross, a cross between F1 dihybrids, can determine whether two
characters are transmitted to offspring as a package or independently

As you start to work word problems in genetics, two things are critical: the
parents genotype must be correct, and the gametes must be formed
correctly. Using Figure 14.8 as your guide, explain how the gametes are
derived for the following cross. (You should have four different gametes).

YyRr YyRr
YR Yr Ry ry

Complete the cross, given in questions 12, by placing the gametes in a

Punnett square. Then provide the phenotypic ratio of the offspring.


Explain Mendels law of independent assortment.

Using a dihybrid cross, Mendel developed the law of independent assortment

The law of independent assortment states that each pair of alleles segregates
independently of each other pair of alleles during gamete formation
Strictly speaking, this law applies only to genes on different, nonhomologous
Genes located near each other on the same chromosome tend to be inherited
Before leaving this concept, it would be helpful to complete the three problems in
the 14.1 Concept Check on page 269 of your textbook. The problems are worked
and explained in the Answer section on page A-10 at the back of the book.

Concept 14.2 The laws of probability govern Mendelian inheritance


An event that is certain to occur has a probability of zero, while an event

that is certain not to occur has a probability of zero.

16. In probability, what is an independent event?

Mendels laws of segregation and independent assortment reflect the rules of
When tossing a coin, the outcome of one toss has no impact on the outcome of
the next toss
In the same way, the alleles of one gene segregate into gametes independently of
another genes allele
17. State the multiplication rule and give an original example.
The multiplication rule states that the probability that two or more independent
events will occur together is the product of their individual probabilities
Probability in an F1 monohybrid cross can be determined using the multiplication
Segregation in a heterozygous plant is like flipping a coin: Each gamete has a
chance of carrying the dominant allele and a
chance of carrying the recessive
18. State the addition rule and give an original example.
The rule of addition states that the probability that any one of two or more
exclusive events will occur is calculated by adding together their
individual probabilities
The rule of addition can be used to figure out the probability that an F2 plant
from a monohybrid cross will be heterozygous rather than homozygous

What is the probability that a couple will have a girl, a boy, a girl, and
a boy in this specific order?

Same as the coin toss below.

Concept 14.3 Inheritance patterns are often more complex than those predicted by
simple Mendelian genetics
Explain how incomplete dominance is different from complete
dominance, and give an example of incomplete dominance.
In incomplete dominance, the phenotype of F1 hybrids is somewhere
between the phenotypes of the two parental varieties

Figure 14.10 Incomplete dominance in snapdragon color

Complete dominance occurs when phenotypes of the heterozygote and

dominant homozygote are identical
21. Compare and contrast codominance with incomplete dominance.
In codominance, two dominant alleles affect the phenotype in separate,
distinguishable ways
In incomplete dominance, the phenotype of F1 hybrids is somewhere
between the phenotypes of the two parental varieties

Dominant alleles are not necessarily more common than recessive alleles in
the gene pool.
Explain why this is true.

The Relation Between Dominance and


A dominant allele does not subdue a recessive allele; alleles dont interact
Alleles are simply variations in a genes nucleotide sequence
For any character, dominance/recessiveness relationships of alleles depend
on the level at which we examine the phenotype

23. Explain what is meant when a gene is said to have multiple alleles.
Most genes exist in populations in more than two allelic forms
For example, the four phenotypes of the ABO blood group in humans are
determined by three alleles for the enzyme (I) that attaches A or B carbohydrates
to red blood cells: IA, IB, and i.
The enzyme encoded by the IA allele adds the A carbohydrate, whereas the
enzyme encoded by the IB allele adds the B carbohydrate; the enzyme encoded by
the i allele adds neither

Blood groups are so important medically that you should be able to solve
genetics problems based on blood types. The first step in accomplishing
that is to understand the genotypes of each blood type. Before working
any problems, complete this ABO blood type chart.


I I or I i


Blood Cell Appearance


Phenotype (Blood Group)



Question 2 in the 14.3 Concept Check is a blood type problem. Complete

it here, and show your work.

26. What is pleiotropy?

Most genes have multiple phenotypic effects, a property called pleiotropy
Explain why this is important in diseases like cystic fibrosis and sickle- cell
For example, pleiotropic alleles are responsible for the multiple symptoms of
certain hereditary diseases, such as cystic fibrosis and sickle-cell
27. Explain epistasis.
In epistasis, a gene at one locus alters the phenotypic expression of a gene at a
second locus
For example, in mice and many other mammals, coat color depends on two genes
One gene determines the pigment color (with alleles B for black and b for brown)
The other gene (with alleles C for color and c for no color) determines whether
the pigment will be deposited in the hair

Explain why the dihybrid cross detailed in Figure 14.12 has 4 white mice
instead of the 3 that would have been predicted by Mendels work.

Figure 14.12 An example of epistasis

29. Why is height a good example of polygenic inheritance?

Height is a good example of polygenic inheritance as indicated below:
1. Quantitative characters are those that vary in the population along a
continuum; and
2. Quantitative variation usually indicates polygenic inheritance, an additive
effect of two or more genes on a single phenotype

Quantitative variation usually indicates polygenic inheritance.

Using the terms norm of reaction and multifactorial, explain the

potential influence of the environment on phenotypic expression.
Another departure from Mendelian genetics arises when the phenotype for a
character depends on environment as well as genotype
The norm of reaction is the phenotypic range of a genotype influenced by the
environment e.g. Hydrangea flowers of the same genotype range from
blue-violet to pink, depending on soil acidity (Figure 14.14 below)
Norms of reaction are generally broadest for polygenic characters
Such characters are called multifactorial because genetic and environmental
factors collectively influence phenotype

Concept 14.4 Many human traits follow Mendelian patterns of inheritance


Pedigree analysis is often used to determine the mode of inheritance

(dominant or recessive, for example). Be sure to read the Tips for pedigree
analysis in Figure 14.15; then complete the unlabeled pedigree by indicating
the genotypes for all involved. Recessive mode of inheritance for this.


Explain why you know the genotype of one female in the third generation, but
are unsure of the other. The F3 generation was not followed in this pedigree.


Describe what you think is important to know medically about the

behavior of recessive alleles. Many genetic disorders are inherited in a
recessive manner.


Students are expected to have a general knowledge of the pattern of

inheritance and the common symptoms of a number of genetic
disorders. Provide this information for the disorders listed below.
a. Cystic fibrosis is the most common lethal genetic disease in the United
States,striking one out of every 2,500 people of European descent
The cystic fibrosis allele results in defective or absent chloride transport
channels in plasma membranes
Symptoms include mucus buildup in some internal organs and abnormal
absorption of nutrients in the small intestine
b. Sickle-cell disease affects one out of 400 African-Americans
The disease is caused by the substitution of a single amino acid in the
hemoglobin protein in red blood cells
Symptoms include physical weakness, pain, organ damage, and even paralysis
c. Achondroplasia is a form of dwarfism caused by a rare dominant allele

Some human disorders are caused by dominant alleles

Dominant alleles that cause a lethal disease are rare and arise by mutation

d. Huntingtons disease is a degenerative disease of the nervous system

The disease has no obvious phenotypic effects until the individual is about 35
to 40 years of age

Amniocentesis and chorionic villus sampling are the two most widely used
methods for testing a fetus for genetic disorders. Use the unlabeled
diagram below to explain the three main steps in amniocentesis and the
two main steps of CVS.

37. What are the strengths and weaknesses of each fetal test?
In amniocentesis, the liquid that bathes the fetus is removed and tested,
DAMAGING, weeks long to find results.
In chorionic villus sampling (CVS), a sample of the placenta is removed and tested,
DAMAGING, several hours to find results
Other techniques, such as ultrasound and fetoscopy, allow fetal health to be
assessed visually in utero, NOT DAMAGING, observation is instant
Explain the symptoms of phenylketonuria, and describe how newborn
screening is used to identify children with this disorder.
The damage caused by PKU can begin weeks after the baby has started drinking
breast milk or formula. Babies with PKU need foods low in phenylalanine to

prevent severe brain damage. Phenylalanine is found in most foods that have
protein, such as milk, cheese, and meats.
A phenylketonuria (PKU) test is done to check whether a newborn baby has the
enzyme needed to use phenylalanine in his or her body. Phenylalanine is an
amino acid that is needed for normal growth and development. If a baby's
body does not have the enzyme that changes phenylalanine into another
amino acid called tyrosine, the phenylalanine level builds up in the baby's
blood and can cause brain damage, seizures, and intellectual disability.
Some genetic disorders can be detected at birth by simple tests that are now
routinely performed in most hospitals in the United States

Testing Your Knowledge: Genetics Problems

(pg. 284) Now you should be ready to test
your knowledge.

This chapter does not have a Self-Quiz, but rather asks you to do a series of
problems. One of the ways to determine your understanding of Mendelian genetics
is to work many genetic problems. Complete the questions from the problems at
the end of the chapter.
Before starting, it would be productive to read the Tips for Genetic Problems
on page 283. Work neatly, and show all work. As you know, you can check your
solutions in your text. Questions: Read and find 2, 3, 5, 6, 7, 8, and 9 below; Do
1, 13, 16, 17, and 19.