Diseases

Question 1

Duchene Muscular Dystrophy - genetic basis

Answer 1

X-linked recessive

Question 2

Duchene Muscular Dystrophy - symptoms

Answer 2

progressive muscle weakness, can’t stand up without arms, increased creatinine kinase (compensatory), calf hypertrophy, wheelchair by 13, death in 30s

Question 3

Fragile X syndrome - repeat ranges

Answer 3

CGG repeats: <50 normal, 46-55 grey zone, 56-200 premutation, 200+ full fragile X

Question 4

Fragile X syndrome - genetic basis

Answer 4

repeats cause oversilencing of FMR1 gene

Question 5

Fragile X - symptoms

Answer 5

mental retardation, agression, hand flapping, autism. BIG EARS, LONG FACE

Question 6

Hemophilia A - genetic basis

Answer 6

mutation in Factor VIII gene (clotting factor)

Question 7

Hemophilia A - symptoms

Answer 7

prolonged bleeding, easy bruising…