Enf Por Expansion De Microsatelites Flashcards by Debany Rodriguez Marquillo

Q

Corea de Huntington, gen

A

HD Y HTT

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Q

Huntington, Cr

A

4p16.3

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Q

Huntington, triplete

A

CAG

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Q

Corea de Huntington, proteína

A

Huntingtonina

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Q

Huntington, Dx

A

PCR múltiplex o Southern Blot

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Q

Corea de Huntington, herencia

A

AUTOSOMICA DOMINANTE

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Q

26 a 35 repeticiones de CAG

A

Permutación de Huntington

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Q

36 a 39 repeticiones de CAG

A

Penetrancia reducida de Huntington

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Q

Mayor a 40 repeticiones de CAG

A

Penetrancia completa dé Huntington

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Q

Distrofia Miotinica Tipo 1, Cr

A

19q

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Q

Distrofia Miotonica, triplete

A

CTG

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Q

Distrofia miotonica, Gen

A

DMPK

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Q

Distrofia Miotonica, proteína

A

Cinasa Miotonica

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Q

50 - 80 repeticiones de CTG

A

Penetrancia reducida de distrofia Miotonica

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Q

81-1000 repeticiones de CTG

A

Penetrancia completa de Distrofia Miotonica

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Q

Ataxia de origen genético más frecuente

A

Ataxia de Friedreich

Q

Ataxia de Friedreich, Cr

A

9q13

Q

Ataxia de Friedreich, triplete

A

GAA

Q

Ataxia de Friedreich, gen

A

FXN

Q

Ataxia de Friedreich, proteína

A

Frataxina

Q

Ataxia de Friedreich, Dx

A

PCR MÚLTIPLEX O SOUTHERN BLOT

Q

34 a 65 repeticiones de GAA

A

Permutación de Ataxia de Friedreich

Q

66 a 1000 repeticiones de GAA

A

Penetrancia reducida de Friedreich

Q

Más de 1000 repeticiones de GAA

A

Penetrancia completa de Ataxia de Friedreich