Monogenic Inheritance Flashcards

1
Q

Autosomal Recessive Diseases

A
  1. Albinism
  2. Cystic Fibrosis- Fatal by early adulthood
  3. Phenylketonuria
  4. Sickle cell anemia- Early death
  5. Tay-Sachs disease- Early death
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2
Q

Autosomal Dominant Diseases

A
  1. Huntington’s disease- Early death
  2. Marfan’s syndrome- death by aortic rupture
  3. Porphyria
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3
Q

X-linked Recessive Diseases

A
  1. Colour blindness
  2. Haemophilia
  3. Muscular dystrophy
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