Introduction to Molecular and

Experimental Genetics

Questions and Answers 25.2.19

A.M.R.Taylor

Genes in pedigrees, Mendelian patterns of

inheritance. Predicting outcomes in
families. Genes in populations. Mutations.
Problems.
Q1.

What are the characteristics of autosomal dominant

inheritance.

What are the characteristics of autosomal recessive

inheritance
Q2.

A boy is born with a number of malformations but does not

have a recognised syndrome. The parents are unrelated and
there is no family history of a similar condition. Which of the
following could explain the situation? Which are unlikely?

1. Autosomal dominant inheritance with new mutation.

2. Autosomal dominant inheritance with reduced penetrance
3. Autosomal dominant inheritance with variable expressivity.
4. Autosomal recessive inheritance.
5. X-linked recessive inheritance.
6. Maternal ingestion of teratogenic drugs at a sensitive
stage of embryonic development.
Q3.

What are the likely phenotypes of the following individuals?

1.A female with 45 chromosomes including a Robertsonian

translocation between chromosomes 14 and 21.

2.A female with 46 chromosomes including a Robertsonian

translocation between chromosomes 14 and 21.

3.A person with a balanced translocation.

What kind of offspring might result, assuming that the other

parent is chromosomally normal.
Q4.

A chromosome entering meiosis is composed of two

chromatids, each of which is a double stranded DNA
molecule.

1. In man, at the end of meiosis I how many chromosomes

are there per cell? How many chromatids? How many DNA
strands?

2.At the end of meiosis II how many chromosomes are there

per cell? How many chromatids? How many DNA strands?

3. When is the diploid chromosome number restored? When

is the two chromatid structure of a typical metaphase
chromosome restored?
Q5.

At a certain locus a person is heterozygous, having

the genotype A/a.

1. What are the genotypes of this person’s

gametes?

2. When do ‘A’ and ‘a’ segregate:

i. When there is no crossing over (recombination)

between the locus and the centromere of the
chromosome.

ii. If there is a single crossover between the locus

and centromere of the chromosome.
Q6.

The birth incidences of 47XXY and 47XYY males are

approximately equal. Is this what you would expect
on
the basis of the possible origins of the two abnormal
karyotypes.
Characteristics of X-linked inheritance

1. Incidence of the trait is much higher in males than

females

2. The gene responsible for the condition is transmitted

from an affected man through all his daughters.

3. The gene is never transmitted from father to son.

4. Sons always inherit their X chromosome from their

mother.
Q7.

Don and his maternal grandfather both have haemophilia A.

Don’s partner, Diane, is his maternal aunts daughter. Don
and Diane have one son, Edward, and two daughters all of
whom have haemophilia. They also have an unaffected
daughter Enid.

1. Draw the pedigree.

2. Why are the affected daughters affected?

3. What is the likelihood that a son of an affected daughter

would be haemophiliac

4. What is the likelihood that a son/daughter of Enid would

be haemophiliac?
Q8.

DMD has a high mutation rate but shows no ethnic

variation in frequency?

Use your knowledge of the gene and the genetics of

DMD to suggest why this disorder is equally common
in all populations.
Q9.

Some DNA sequence changes are only ‘putative’

mutations.

What criteria does one need to fulfil before

knowing that a nucleotide change is a mutation
and not a polymorphism.
Q10.

A newborn child with Down Syndrome, when

karyotyped is found to have two cell lines; 70% of her
cells have typical 47, XX+21 karyotype and 30% are
normal 46XX.

When did the non-disjunctional event probably occur.

What is the prognosis for this child?

Q11.

On what basis did Haldane come to the conclusion

that the male mutation rate for X-linked
haemophilia was roughly 10x that of the female.
Q12.

What proportion of the life of:

An autosome
An X chromosome
A, Y chromosome

is spent in a male and a female

Q13.

What sort of human disorders might be

prone to a paternal age effect?
 HARDY WEINBERG RULE I

Suppose that a gene has two common alleles A and B

Let their frequencies in the population be a and b

So, a + b = 1

Suppose that frequency a = 0.6 and b = 0.4

To create the next generation, alleles combine at random

The chances of A combining with A are: 0.6 x 0.6 = 0.36

The chances of B combining with B are: 0.4 x 0.4 = 0.16
The chances of A combining with B are:(0.4 x 0.6) + (0.6 x 0.4) = 0.48

Therefore, the distribution of the genotypes AA, AB and BB in this

population is:
AA = 0.36, AB = 0.48, BB = 0.16
 THE HARDY WEINBERG EQUATION

If alleles A and B have frequencies a and b in a

randomly mating population, the frequencies of
the three possible genotypes AA, AB and BB
will be given by the equation:

a2 + 2ab + b2 = 1
 HARDY WEINBERG RULE II

The Hardy Weinberg equation can inform about the

frequency of carriers.

For example, the frequency of phenylketonuria (PKU) in the

UK population is 1/15,000 (or 0.00007)

which is a2 (AA) (freq. of PKU)

So a2 = 0.00007
And, therefore, frequency of PKU allele, a = 0.00007 =
0.0084

Frequency (b) of the normal allele is 1 – 0.0084 = 0.992

Frequency of heterozygotes is 2ab = 2 x 0.0084 x 0.992 =
0.016, or 1 in 60
Question 14.

A lady whose sister has a severe autosomal recessive disorder is

concerned that she might have a child with the same disorder.

i.If the couple are not related, what is the risk that the first child will
have the disorder?

ii. If they are first cousins what is the risk?

The population incidence of the disorder is about 1 in 90,000.