Triplet repeat disorders Flashcards
1
Q
Fragile X: repeat
A
CGG
2
Q
Fragile X: location of repeat
A
5’ UTR
3
Q
Fragile X: protein and location
A
FMR-1, Xq
4
Q
Huntington disease: repeat
A
CAG
5
Q
Huntington disease: repeat location
A
exon 1
6
Q
Huntington disease: protein and location
A
huntingtin, 4p
7
Q
Myotonic dystrophy type 1: repeat
A
CTG
8
Q
Myotonic dystrophy type 1: location of repeat
A
3’ UTR
9
Q
Myotonic dystrophy type 1: protein and location
A
DM kinase, 19q