ABMGG ABMGG Inheritance Patterns and Population Genetics

Question 1

In autosomal dominant inheritance, what is the recurrence risk for each offspring of an affected parent?

Accepted Answer

50%

Answer

25%

Answer

100%

Answer

0%

Question 2

Which inheritance pattern is characterized by transmission exclusively through the maternal line with variable expressivity among family members?

Accepted Answer

Mitochondrial inheritance

Answer

X-linked recessive inheritance

Answer

Autosomal dominant with reduced penetrance

Answer

Y-linked inheritance

Question 3

A couple is each a carrier of the same autosomal recessive variant. What is the probability that their child will be an unaffected carrier?

Accepted Answer

50%

Answer

25%

Answer

75%

Answer

0%

Question 4

Genomic imprinting results in disease when:

Accepted Answer

Both copies of a gene are inherited from the same parent (uniparental disomy) or one copy's imprint is erased

Answer

A dominant allele fails to be expressed due to low penetrance

Answer

A recessive variant occurs in compound heterozygous form

Answer

Trinucleotide repeats expand during maternal transmission only

Question 5

What term describes the phenomenon where carrier females of an X-linked recessive condition are clinically affected due to skewed X-inactivation?

Accepted Answer

Manifesting carrier

Answer

Obligate carrier

Answer

Hemizygous affected

Answer

Compound heterozygote

Question 6

Hardy-Weinberg equilibrium predicts allele frequencies in a population remain stable under which set of conditions?

Accepted Answer

Random mating, no mutation, no selection, no genetic drift, no gene flow

Answer

Inbreeding, large population size, selective pressure, high mutation rate

Answer

Random mating, small population, founder effect, no migration

Answer

Non-random mating, no selection, equal sex ratio, high recombination