BSC 109 (GENETICS) FINAL LECTURE TAKE HOME EXAMINATION

A. CASE STUDY: A FIRST FOR GENE THERAPY

In 1990, a young girl who was born without a functional immune system became the first person to
undergo gene therapy. In an attempt to treat her autosomal recessive disorder, known as severe
combined immunodeficiency (SCID), cloned copies of the gene encoding the missing enzyme (adenosine
deaminase, or ADA) were inserted into some of her white blood cells, which were injected back into her
bloodstream. Expression of the normal ADA allele led to the development of a functional immune
system, allowing the girl to lead a normal life. An understanding of this spectacular success depends on
knowing several details of this process:

Questions:

1. Is it important that the cloned gene becomes part of a chromosome when inserted into a cell?
2. Does the cloned gene replace the defective copy of the ADA gene?
3. Why were white blood cells chosen as targets for the transferred genes?
4. Would you expect that production of 50 % of the normal levels of ADA would be enough to
restore immune function?
B. Answer only 2 questions.
1. What are some of the reasons GM crops are controversial? Describe some of the primary
concerns that have been raised about GM foods.
2. Provide examples of major questions that need to be answered if gene therapy is to become
a safe and reliable treatment for genetic diseases.
3. In order to vaccinate people against disease by having them eat antigens (such as cholera
toxin), the antigen must reach the cells of the small intestine. What are some of the
potential problems of this method?
4. Why are most recombinant human proteins produced in animal or plant host instead of
bacterial host cells?
C. Answer only 2 questions.
1. What does Hardy-Weinberg principle imply about the relative frequencies of heterozygous
carriers and homozygous affected organisms for a rare, harmful recessive allele?
2. Traits due to recessive alleles in the X chromosome are usually much more prevalent in
males than in females. Explain why this discrepancy is expected with random mating.
3. Why are the effects of inbreeding more easily observed with a rare recessive allele than with
a rare dominant allele?
4. What is the fitness of an organism that dies before the age of reproduction? What is the
fitness of an organism that is sterile?
5. What is random genetic drift and why does it occur/ explain why this process implies that in
the absence of other forces, the ancestry of all alleles present at a locus in a population can
eventually be traced back to a single allele present in some ancestral population.
D. Answer both questions
1. A well-known movie actor in California was accused of fathering the child of a former friend.
Three qualified physicians analyzed blood tests performed on the child, the mother and the
alleged father. The results presented to the court were as follows:
Alleged father Type O
Mother type A
Daughter type B
On the basis of blood group analysis, show the falsity or veracity of the accusation.
2. A young couple had a haemophilic son and wants to know the risk of having a second
haemophilic child should they enlarge their family. The genetic counsellor tells them there is
no risk of having a haemophilic daughter but there is a predictable risk for their producing a
second haemophilic son.
a. What are the genotypes of the two parents?
b. What is the probability that their second child will be haemophilic son?
c. What are their chances of having two affected sons in a family of only two children?