Genetics

Question 1

Marfans inheritance pattern

Answer 1

Autosomal dominant

Question 2

HOCM - inheritance and 2 common genes affected

Answer 2

Autosomal dominant
Beta myoglobin heavy chain
Myosin binding protein c

Question 3

Brugada inheritance and most common gene

Answer 3

Autosomal dominant
Scn5a

Question 4

Levers optic atrophy
Inheritance + describe

Answer 4

Mitochondrial inheritance
Loss of colour vision at 30 years of age -> rapid vision loss

Question 5

MODY gene

Answer 5

HNF1 Alpha
GCK mutation

Question 6

Turners - heart pathology

Answer 6

Bicuspid aortic valve
Coarctation of aorta