Monogenic Inheritance Flashcards
1
Q
Autosomal Recessive Diseases
A
- Albinism
- Cystic Fibrosis- Fatal by early adulthood
- Phenylketonuria
- Sickle cell anemia- Early death
- Tay-Sachs disease- Early death
2
Q
Autosomal Dominant Diseases
A
- Huntington’s disease- Early death
- Marfan’s syndrome- death by aortic rupture
- Porphyria
3
Q
X-linked Recessive Diseases
A
- Colour blindness
- Haemophilia
- Muscular dystrophy