Genetics Flashcards
1
Q
What is penetrance?
A
the likelihood of having a disease if you have a genetic mutation
2
Q
What is the collective name autosomal dominant and recessive conditions
A
Mendelian disorders
3
Q
what type of investigation can sequence the entire genome of a person?
A
Next generation sequencing
4
Q
What is likely affected in marfans syndrome
A
Fibrillin mutation
5
Q
what is the genetic mutation in Loeys Dietz syndrome?
A
TBR1 or TBR2
