Genetic inhertitance Flashcards
1
Q
AD exceptions
A
- New mutation
- Reduced penetrance
- Variable expression
- Germline mosaicism
2
Q
Mechanisms of AD mutations
A
Loss of function
Gain of function
Dominant negative (antimorphic)
Atavistic
3
Q
Founder effect
A
mutant alleles more common in certain populations
4
Q
2 options with trisomy 7
A
miscarriage
trisomy rescue
5
Q
Pseudodomiant inheritance
A
known recessive + normal | | | producing : affected children with recessive
6
Q
X-inactivation center
A
Xq13
