Auotosmal recessive Flashcards
How does autosomal recessive inheritance work?
If you have vertical transmission through 3 generation it is NOT autosomal recessive.
Involves enzyme deficiences
Galctosemia
Autosomal recessive, enzyme deficiency
Aplha-1 Antitrypsin Deficiency
Autosomal recessive, enzyme deficiency
Sickle cell
Autosomal recessive, enzyme deficiency
Thalassemia
Autosomal recessive, enzyme deficiency
Hurler Syndrome
Autosomal recessive, enzyme deficiency
Ataxia Telangiectasia
Autosomal recessive, enzyme deficiency
Tay Sachs Disease
Autosomal recessive, enzyme deficiency
Wilson Disease
Autosomal recessive, enzyme deficiency
Adrenogential Syndrome (Alpers syndrome)
Autosomal recessive, enzyme deficiency
Kartagener Syndrome
Autosomal recessive, enzyme deficiency
Pickax=PKU
Autosomal recessive, enzyme deficiency
What portion of unaffected offspring are carriers?
2/3
