Biochemistry Flashcards
1
Q
Locus Heterogeneity
A
The same disease phenotype is caused by mutations on different loci
2
Q
Anticipation
A
Individuals in a later generation get a disease earlier and in a more severe fashion then those in earlier generations
3
Q
Pleiotropy
A
A single disease causing mutation affects multiple organ systems (Marfans)
4
Q
Incomplete penetrance
A
People who have the disease genotype that do not have the phenotype of the disease
5
Q
Repeat for Huntington
A
Cag
6
Q
Repeat for fragile x
A
Cgg
7
Q
Repeat for myotonic dystrophy
A
CTG
8
Q
Repeat for friedreich ataxia
A
GAA
