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MASSEY UNIVERSITY
MANAWATU & ALBANY CAMPUSES
EXAMINATION FOR
203.203 HUMAN GENETICS
Semester One - 2013

Time allowed: THREE (3) hours

Answer EIGHT (8) out of ten questions
All questions are of equal value
THE USE OF CALCULATORS IS PERMITTED

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1.

Discuss the importance of gene balance in human genetics. Include explanations

of whether gene balance is important in single gene defects and in chromosome
defects.

2.

For the pedigree below:

a) Who is the proband?
b) What is the likely mode of inheritance of the trait? Give your reasons.
c) How did the gene most likely enter the pedigree (assuming the pedigree is
accurate)?

3.

a) Describe the three major cancer gene classes.

b) Briefly describe ataxia telangiectasia, indicating the class of cancer gene that is
defective in this disorder.
c) Briefly describe chronic myeloid leukemia, indicating the class of cancer gene
that is defective in this disorder.
d) Briefly describe Li-Fraumeni syndrome, indicating the class of cancer gene that
is defective in this disorder.

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4.

Discuss whether each of the following factors may contribute to ageing:

a) Exposure to certain environmental factors.
b) Failure of repair enzymes.
c) Cessation of mitotic activity.
d) Certain inherited genetic information.
e) Genetic alterations in somatic cells.

5.

a) Define correlation coefficient and % concordance. Explain when each would be

used in twin studies.
b) What correlation coefficient results would indicate that only genetic factors
contribute to a particular trait? Explain your answer.
c) What correlation coefficient results would indicate that only environmental
factors contribute to a particular trait? Explain your answer.
d) What correlation coefficient results would indicate that both genetic and
environmental factors contribute to a particular trait? Explain your answers.

6.

Assume that in country A, all schools are equally bad, learning is never
encouraged, and all other environmental factors relevant to taking IQ tests are
constantly unfavourable. Assume that in country B, all schools are equally good,
children are impartially encouraged in mental tasks, and all other environmental
factors relevant to IQ are constantly good.
a) Explain whether environmental variation in country A, with respect to IQ, is
likely to be low or high, and whether heritability is likely to be low or high.
b) Explain whether environmental variation in country B, with respect to IQ, is
likely to be low or high, and whether heritability is likely to be low or high.
c) Discuss whether the average IQ scores are likely to be different for the two
countries.

7.

Describe five ways by which the immune system can cause disease. Give an
example of each.

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8.

a) What are the multiregional and out of Africa models of human origin?
b) Describe the genetic evidence that supports the out of Africa model.

9.

Discuss, using specific examples, the individual human variation observed in

responses to pharmaceutical drugs, in terms of both therapeutic and adverse
effects.

10. a) What is the mode of inheritance of cystic fibrosis?

b) A man whose brother has cystic fibrosis marries a woman whose sister has the
disease. None of their parents had cystic fibrosis. Neither the husband nor the
wife has the disease, but it is not known if either is a carrier. What is the
probability that the couples first child will have cystic fibrosis?
c) If the couple have four children and none have cystic fibrosis, explain whether
the probability that their fifth child will have cystic fibrosis is the same as the
answer given for part (b).

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