Genetics

Question 1

What is the inheritance pattern of Huntington’s disease?

Answer 1

Autosomal dominant - 50% risk to offspring

Question 2

What is the inheritance pattern of Cystic fibrosis?

Answer 2

Autosomal recessive - parents must both be carriers for child to have disease. 25% chance if they are

Question 3

What is the inheritance pattern of duchenne muscular dystrophy?

Answer 3

X linked. All daughters of affected men are carriers. Sons are NOT affected if their father has it. Sons will have a 50% chance of being affected if their mother is a carrier

Question 4

What is the inheritance pattern of Tay Sachs?

Answer 4

Autosomal recessive

Question 5

What is the inheritance pattern of marfans?

Answer 5

Autosomal dominant

Question 6

What is the inheritance pattern of familial hypercholesterolaemia?

Answer 6

Auto. Dom.

Question 7

What is the inheritance pattern of B Thalassemia?

Answer 7

Auto. Rec.

Question 8

What conditions are newborns screened for?

Answer 8

PKU, hypothyroidism, galactosaemia, cystic fibrosis and sickle cell disease

Question 9

What is the carrier rate for cystic fibrosis?

Answer 9

1:25

Question 10

What can be measured in utero to test for neural tube defects?

Answer 10

alpha feta protein