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.
