Genetics in Medicine

Question 1

What are some symptoms of Sickle Cell Anaemia?

Answer 1

Anaemia, fever, severe pain

Question 2

What does haemoglobin comprise of?

Answer 2

Two molecules of alpha globin and two molecules of beta globin

Question 3

How is SCA caused on a molecular level?

Answer 3

Single DNA mutation of an A to a T in the beta globin gene which causes a change in the beta globin protein at position 6 in the amino acid chain from glutamate to valine

Question 4

How is SCA inherited?

Answer 4

Autosomal recessive

Question 5

What do heterozygous individuals for the SCA mutation have?

Answer 5

Mild form called sickle cell trait

Question 6

What are individuals with sickle cell trait resistant to?

Answer 6

Malaria

Question 7

What are some symptoms of Huntington’s disease?

Answer 7

Seizures, abnormal gait, personality changes, dementia

Question 8

What is the mutation involved in Huntington’s disease?

Answer 8

Short tandem repeat - CAG repeats

Question 9

How is Huntington’s disease inherited?

Answer 9

Autosomal dominant

Question 10

What is the age of onset of Huntington’s?

Answer 10

Commonly 40-50, age of onset becomes earlier and symptoms more severe from generation to generation

Question 11

What is age of onset affected by?

Answer 11

Length of CAG repeat