Estimating risk of inherited genetic disease

Question 1

What are the common recessive diseases?

Answer 1

sickle cell disease
thalassaemia

Question 2

How does mutation in dominant and x linked genes arise?

Answer 2

inherited
or
de novo

Question 3

What is a de novo mutation?

Answer 3

a genetic mutation that occurs in an individual’s DNA for the first time, without being inherited from their parents.

Question 4

When is de novo mutation common?

Answer 4

in dominant disorders especially where diseases reduces reproductive fitness

up to 1/3 of lethal X-L cases are due to a de novo mutation

Question 5

What are the Hardy-Weinberg equillibrium hypothesis?

Answer 5

Allele frequencies remain constant generation to generation.
Relative proportion of genotype frequencies remain constant generation to generation.

Question 6

What are the outcomes of non random mating?

Answer 6

increases mutant alleles

Question 7

What is assortative mating?

Answer 7

choosing of partners due to shared characteristics
deafness and sign language

Question 8

What is consanguinity?

Answer 8

Marriage between close blood relatives