Biochem 86 Flashcards
1
Q
Describe autosomal dominant inheritance
A
- defects in structural genes
- many generations; both male and female
- often pleiotropic
2
Q
Describe autosomal recessive inheritance
A
- 25% offspring affected
- usually produce enzyme deficiencies
3
Q
Describe X-linked recessive
A
- Sons of mothers have 50% chance of being affected
- No male to male transmission
4
Q
Describe X-linked Dominant
A
- Transmissted through both parents
- Mothers transmit to 50% daughters and sons
- Fathers transmit to all daughters but no sons
5
Q
Which disorder is X-linked Dominant? Describe.
A
- Hypophosphatemic rickets (formerly Vit D reistant rickets)
- Inherited disorder resulting in increased phosphate wasting at proximal tubule
6
Q
Describe Mitochondrial inheritance
A
- all offspring of affected females may show signs of disease
