Exam 2 Study Questions

 The following portions are taken from your class notes which should be reviewed in
total with a focus on these facts
 Review the vocabulary in chapters 11, 12, 14, 15, 16 especially those having to do
with this review material and those mentioned in your class handout.
 Review the handout that discussed “Cracking the Code of Life”, especially the
questions handout of the DVD.
 Bring to class your notes and text

Chapter 11 (ed 5) Chap. 8 (ed 4)

Foundations of Genetics

 The gene is the basic unit of heredity, a sequence of nucleotides on a chromosome. Its
purpose is to determine amino acid sequence, therefore the structure of proteins.

A gene in relation to DNA & Chromosome.

There are 20,000 - 25,000 genes in the human genome located in 23 chromosomes
will accept 25-30,000 genes

 Genes specify the amino acid sequence of proteins

 The amino acid sequence determines the shape and activity of proteins
 Proteins determine what the body looks like and how it functions

 Mutations in a gene – a change in the identity of a single nucleotide within a gene can have a
profound effect if that change altars the identity of the amino acid it would normally code for
and the protein it makes. Evolution tells us that natural selection can choose the defect if it is
advantageous to the organism. Mutations cause genetic disorders.

• Human somatic cells have 23 pairs of chromosomes

– 22 pairs of autosomes (# 1 -22)
– 1 pair of sex chromosomes (# 23)
• XX in females
• XY in males

Down Syndrome
• Caused by trisomy 21 (3 #21 chromosomes instead of 2)

Diseases cause by mutations: know some basic information about them- remember a recessive
mutation must be carried by both parents, if only one parent, the offspring just carries the trait but
doesn’t have the disease.
 Sickle Cell
 Hemophilia
 Tay-Sachs Disease
• Genetic counseling identifies parents at risk of producing children with genetic defects
and
assesses the state of early embryos
– It also offers advise on medical treatments and options
• High-risk pregnancies
– Parents with recessive traits
– Mothers older than 35

Chapter 12 ed 5 (Chap.9 ed 4) - How Genes Work

 two DNA strands are held together by weak hydrogen bonds between complementary base
pairs
 A and T
 C and G

 Mutation and recombination provide the raw material for evolution

 Mutations in germ-line tissues can be inherited

 Mutations in somatic tissues are not inherited

o They can be passed from one cell to all its descendants
 Mutation, Smoking and Lung Cancer
o Agents that cause cancer are called carcinogens
o These are typically mutagens- cause mutations….

Chapters 14 ed 5 (Chap. 10 ed 4) - Gene Technology

Genetic Engineering

A. Transferring genes from one organism to another falls into the realm of genetic
engineering.
B. Genetic engineering is having a major impact on medicine and agriculture.
Know some examples of each

Medicine:

1. Bacteria now mass-produce human insulin, the hormone that is under produced
in diabetics.
2. Other products, such as anticoagulants to dissolve blood clots and factor VIII to
promote clotting, are now safely produced by bacteria, which eliminates the
possibility of transferring diseases from a human donor.

Gene therapy, inserting normal genes into people who have inherited defective genes, is
now possible with the advent of genetic engineering

Agriculture:
Farm Animals: the mass production of certain bacterial components
which when fed to dairy cows, greatly enhances milk production.
Growth hormones enhance the size of pigs and cattle.
Crop Plants : Pest Resistance: cotton, have been engineered to be resistant
to insect pests; enzymes toxic to certain plant pests have been inserted into
 tomatoes and other crops so that when the insect bites into a plant, it is killed;
Nutritious Crops- “Golden” rice has been genetically engineered to contain
vitamin A, a vitamin that is normally insufficient in diets worldwide.

Potential Risks of Genetically Modified Crops?

1. Consumers worry that eating genetically-modified food might be dangerous or
that GM crops are harmful to the environment.
2. Other than allergic reactions to modified proteins, dangers to the consumer
appear to be slight.
3. Whether GM products are potentially harmful to the environment is not
yet clear.

Chapter 15 ed 5 (11ed4) Genomics

Genome - The full complement of genetic information of an organism found

in the nucleus of cells-all of its DNA

. Comparing Genomes
 Comparing the entire DNA sequence (genome) of different species
provides a powerful tool to explore relationships between species.

The draft sequence of the human genome was reported on

June 26, 2000. the final sequencing was in April 2003.
 It consists of 3.2 billion base pairs

The number of genes in humans is only about 25,000-30,000 Base Pairs

Genes are not distributed evenly throughout the human genome

 On most chromosomes, clusters rich in genes are scattered between
vast stretches of “barren” DNA

Chapter 16 ed 5 (11ed4) Cell Technology

Reproductive vs Therapeudic Cloning- be familiar with the process of transfer- refer to

the diagram provided in the class lecture notes…also found in the text
 Mammary cells were removed from the udder of a six-year old sheep
 The nucleus was removed from an egg cell taken from another sheep
 The nucleus from the mammary cell was transferred to the enucleated egg cell
 An electric shock was applied to start cell division
 The successful embryos (about 30 in 277 tries) were transplanted into surrogate
mother sheep
 On July 5, 1996, “Dolly” was born
 Only 1 of 277 tries succeeded
 Wilmut proved that reproductive cloning is possible

Reproductive Cloning- Problems

 Since Dolly, scientists have successfully cloned sheep, mice, cattle, goats and
pigs
 However, problems and complications arise, leading to premature death
 Dolly died in 2002, having lived only half a normal sheep life span

Benefits of Human Cloning

  Help infertile couples
 Grow organs from embryonic stem cells

Only 1% to 1.5% of the human genome is coding DNA devoted to genes

that code for proteins.
Of the 6 ft of DNA in each cell less than 1- inch is devoted to genes.
99% of DNA in your cells has little or nothing to do with the instructions that
make you you. Genes are scattered among noncoding DNA.

The Next Frontier

The future of the Human Genome- determine which genes
code for specific proteins.
The new frontier of science is then: Proteomics
 Cataloging and analysis of every protein in the human body
 Researching how gene sequences affect a proteins shape (shape dictates
function).

The Ethics of Genetic Testing

Ethical, legal and social implications
 Discrimination – employers, insurance companies
 Patient rights – right to know or be told, make decisions
 Probability and risk – having a mutated gene does not mean a person
will develop the disease

review notes in class lecture handout of following headings

Therapeutic cloning-

Embryonic Stem Cells

Embryonic Stem Cell Research – Problems

Ethics of Stem Cell Research

Gene therapy
Gene therapy has raised serious ethical issues

Also review the diagrams on the class handout beginning with the cloning of
Dolly.