1201/203.

203
MAN/ALB
Internal/Block
CP

MASSEY UNIVERSITY
MANAWATU & ALBANY CAMPUSES
EXAMINATION FOR
203.203 HUMAN GENETICS
Semester One 2012
____________________________
Time allowed: THREE (3) hours
Answer EIGHT (8) out of ten questions
All questions are of equal value

Calculators are permitted

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1.

a)

b)

2.

3.

What types of chromosome abnormality can occur if there is a

failure of chromosome separation in meiosis? Discuss the severity
of these chromosome abnormalities.
What types of chromosome abnormality can occur if there is a
failure of chromosome separation in mitosis? Discuss the severity
of these chromosome abnormalities.

For each of the following single-gene disorders, note whether inheritance

is X-linked or autosomal, and whether the mutant allele is dominant or
recessive. For each, explain whether the disorder is caused by the
accumulation of a molecule (this could be a protein or metabolic
product).
a)
b)
c)
d)
e)

Alzheimer disease
Duchenne muscular dystrophy
Huntington disease
phenylketonuria
retinoblastoma

a)

Draw the pedigree symbols to represent:

(i)
affected female
(ii)
consanguineous marriage
(iii)
dead female
(iv)
dizygotic twins
(v)
unaffected male
(vi)
heterozygous female for an X-linked trait
(vii)
heterozygous male
(viii)
miscarriage
(ix)
monozygotic twins
(x)
proband
(xi)
two unaffected individuals with sex unspecified
Draw a pedigree where two parents had four offspring. Use the
pedigree numbering system to identify each individual.
If a male has an X-linked dominant trait, what can be concluded
about the presence of the trait in his parents and children?
If a female has an X-linked dominant trait, what can be concluded
about the presence of the trait in her parents and children?

b)
c)
d)

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4.

a)

b)

5.

a)

b)

6.

a)
b)
c)
d)

Some cancers have an association between an oncogene and a

particular type of chromosome change. Discuss whether the
chromosome change is more likely to be a deletion or a
translocation. Briefly describe an example of a cancer of this type.
Some cancers have an association between a tumour suppressor
gene and a particular type of chromosome change. Discuss
whether the chromosome change is more likely to be a deletion or
a translocation. Briefly describe an example of a cancer of this
type.

Suppose that in a particular human population, variation in height is

affected by four genes R, S, T, U and that environmental effects
are insignificant. The + alleles of these genes each contribute two
units to height, while the - alleles each contribute one unit.
(i) Explain whether two people of moderate height can produce
offspring that are much taller or shorter that either parent.
(ii) If a person at the short end of the height range marries a
person of intermediate or moderate height, explain whether
any of their children could be taller than both parents.
(iii) Explain whether its possible that some parents of moderate
height cant have offspring who are significantly shorter or
taller than them.
Suppose that in a different population, variation in height is not
significantly affected by genes, but environmental effects are
significant.
(i) Explain whether two people of moderate height can produce
offspring that are much taller or shorter that either parent.
(ii) If a person at the short end of the height range marries a
person of intermediate or moderate height, explain whether
any of their children could be taller than both parents.
(iii) Explain whether its possible that some parents of moderate
height cant have offspring who are significantly shorter or
taller than them.

Why does dopamine and dopamine biochemistry have a significant

effect on behaviour?
Describe the role of the dopamine receptor DRD4 in the noveltyseeking personality trait and in ADHD.
Describe the role of COMT and environmental factors in
schizophrenia.
Discuss possible reasons for the prevalence of DRD4 alleles that
are risk factors for ADHD.

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7.

a)

b)
c)

What blood types are possible in the ABO blood group? For each
blood type, explain which alleles may be present, which ABO
antigens may be present, what antibodies are produced by a
person with that genotype, and what antibodies are not produced.
Assume that the H allele is present.
Explain which blood type is the universal donor and which is the
universal recipient.
Describe the H gene and its function, and explain how the answer
given in (a) could be affected by the H gene genotype.

8.

a)
b)

What is personal genomics?

Explain how personal genomics could make a useful contribution to
genetic medicine.

9.

a)

Modern humans are believed to have arisen in eastern Africa, then

spread throughout Africa and the rest of the world. Describe the
early African populations and early migrations out of Africa.
Describe the origins of the Polynesians.

b)

10. Diet can have a selective effect on evolution in modern humans. Explain
how each of the following could be an example of this.
a)
b)
c)

skin colour in Europeans

lactase persistence
type 2 diabetes

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