بیماری هایی با ژن های تکراری Flashcards
(18 cards)
Huntington Disease
HTT , CAG , coding
Myotonic dystrophy typel
DMPK CTG 3`UTR
Myotonic dystrophy type2
CNBP CCTG. Intron1
Fragile X siteA
FMR1. CGG. 5`UTR
Kennedy disease
AR. CAG. Coding
Spinocerebellar ataxia 1
ATXN1. CAG. coding
Spinocerebellar ataxia 2
ATXN2 CAG. Coding
Spinocerebellar ataxia 3
ATXN2. CAG. Coding
Spinocerebellar ataxia 6
CACNA1A. CAG. Coding
Spinocerebellar ataxia 7
ATXN7. CAG. Coding
Spinocerebellar ataxia 8
ATXN8. CTG. 3`UTR
Spinocerebellar ataxia 10
ATXN10. ATTCT. Intron9
Spinocerebellar ataxia 12
PPP2R2B. CAG. 5`UTR
Spinocerebellar ataxia 17
TBP. CAG. Coding
Dentatorubral-pallidoluysian atrophy
ATN1. CAG. Coding
Friedreich ataxia
FXN1 GAA. Intron1
Fragile X site E
AFF2. CCG. Promoter
Oculopharyngeal muscular dystrophy
PABPN1. GCG. Coding