بیماری هایی با ژن های تکراری Flashcards

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1
Q

Huntington Disease

A

HTT , CAG , coding

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2
Q

Myotonic dystrophy typel

A

DMPK CTG 3`UTR

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3
Q

Myotonic dystrophy type2

A

CNBP CCTG. Intron1

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4
Q

Fragile X siteA

A

FMR1. CGG. 5`UTR

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5
Q

Kennedy disease

A

AR. CAG. Coding

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6
Q

Spinocerebellar ataxia 1

A

ATXN1. CAG. coding

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7
Q

Spinocerebellar ataxia 2

A

ATXN2 CAG. Coding

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8
Q

Spinocerebellar ataxia 3

A

ATXN2. CAG. Coding

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9
Q

Spinocerebellar ataxia 6

A

CACNA1A. CAG. Coding

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10
Q

Spinocerebellar ataxia 7

A

ATXN7. CAG. Coding

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11
Q

Spinocerebellar ataxia 8

A

ATXN8. CTG. 3`UTR

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12
Q

Spinocerebellar ataxia 10

A

ATXN10. ATTCT. Intron9

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13
Q

Spinocerebellar ataxia 12

A

PPP2R2B. CAG. 5`UTR

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14
Q

Spinocerebellar ataxia 17

A

TBP. CAG. Coding

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15
Q

Dentatorubral-pallidoluysian atrophy

A

ATN1. CAG. Coding

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16
Q

Friedreich ataxia

A

FXN1 GAA. Intron1

17
Q

Fragile X site E

A

AFF2. CCG. Promoter

18
Q

Oculopharyngeal muscular dystrophy

A

PABPN1. GCG. Coding