Genetics

Question 1

Name 2 types of neuro disorders which are autosomal dominant

5 listed

Answer 1

Huntingtons
Neurofibromatosis
Tuberous sclerosis
Charcot marie tooth
Von hippel lindau

Question 2

Name 2 features of tuberous sclerosis

Answer 2

Ash leaf macules
Abnormal growths in kidneys, heart, eyes and lungs
Defects in tuberin, hamartin

Question 3

What type of inheritance is seen in CF and Tay Sachs?

Answer 3

Autosomal recessive

Question 4

Name 2 types of X-linked diseases

4 listed

Answer 4

Duchenne muscular dystrophe
Becker MD
Fragile X
Haemophilia

Question 5

What type of genetic inheritance causes:

• Leber’s hereditary optic neuropathy
• Kearn Sayre syndrome
• MELAS
• Pearson syndrome

Answer 5

Mitochondrial

Question 6

On which chromosome are there deletions/unexpressed in Prader Willi syndrome and Angelman’s syndrome?

Answer 6

15