Genetics

Question 1

MEN 1

Answer 1

Autosomal Dominant

• menin gene

Question 2

CF

Answer 2

Autosomal recessive

• CFTR gene

Question 3

Both parents carriers in autosomal recessive

Answer 3

1/4 chance of inheritance

Question 4

Haemophilia A & B

Answer 4

X-linked

Question 5

Autosomal dominant + X-linked have a

Answer 5

1/2 chance of passing onto next generation

Question 6

X linked conditions with affected father will mean

Answer 6

100% of daughters
0% sons

will be affected

Question 7

Familial hypercholesterolaemia

Answer 7

Autosomal dominant

• lipoprotein receptor (LDLR) gene
• Apo gene
• PCSK9 gene

Question 8

Hereditary haemochromatosis

Answer 8

Autosomal recessive

• HFE gene

Question 9

Wilson’s disease

Answer 9

Autosomal recessive

• adenosine triphosphatase gene (ATP7B)

Question 10

Sickle cell

Answer 10

Autosomal recessive