بیماری هایی با ژن های تکراری Flashcards
1
Q
Huntington Disease
A
HTT , CAG , coding
2
Q
Myotonic dystrophy typel
A
DMPK CTG 3`UTR
3
Q
Myotonic dystrophy type2
A
CNBP CCTG. Intron1
4
Q
Fragile X siteA
A
FMR1. CGG. 5`UTR
5
Q
Kennedy disease
A
AR. CAG. Coding
6
Q
Spinocerebellar ataxia 1
A
ATXN1. CAG. coding
7
Q
Spinocerebellar ataxia 2
A
ATXN2 CAG. Coding
8
Q
Spinocerebellar ataxia 3
A
ATXN2. CAG. Coding
9
Q
Spinocerebellar ataxia 6
A
CACNA1A. CAG. Coding
10
Q
Spinocerebellar ataxia 7
A
ATXN7. CAG. Coding
11
Q
Spinocerebellar ataxia 8
A
ATXN8. CTG. 3`UTR
12
Q
Spinocerebellar ataxia 10
A
ATXN10. ATTCT. Intron9
13
Q
Spinocerebellar ataxia 12
A
PPP2R2B. CAG. 5`UTR
14
Q
Spinocerebellar ataxia 17
A
TBP. CAG. Coding
15
Q
Dentatorubral-pallidoluysian atrophy
A
ATN1. CAG. Coding