Genetics

Question 1

Types of Familial Hypercholesterolaemia and inheritance

Answer 1

Autosomal dominant usually

Heterozygous FH: Most people with FH have inherited a defective gene for the condition from one parent only

Homozygous FH: This is rarer - get it from both parents. Untreated LDL above 10 might suggest this

Mutation usually causes loss-of-function mutation in the gene encoding the LDL receptor.

Question 2

How is retinoblastoma inherited

Answer 2

Autosomal dominant. Around 10% of cases are hereditary

Question 3

How is otosclerosis inherited

Answer 3

Autosomal dominant

Question 4

HOCM inheritance

Answer 4

AD - actually quite common (1 in 500) - get defects in genes encoding contractile proteins

Question 5

Wilsons disease inheritance

Answer 5

Autosomal recessive

Question 6

Charcot marie tooth disease inheritance

Answer 6

Autosomal dominant

Question 7

haemochromatosis

Answer 7

recessive
HFE mutation