Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

被引：629

作者：

David, G

Abbas, N

Stevanin, G

Durr, A

Yvert, G

Cancel, G

Weber, C

Imbert, G

Saudou, F

Antoniou, E

Drabkin, H

Gemmill, R

Giunti, P

Benomar, A

Wood, N

Ruberg, M

Agid, Y

Mandel, JL

Brice, A

机构：

[1] HOP LA PITIE SALPETRIERE, INSERM U289, F-75651 PARIS 13, FRANCE

[2] HOP LA PITIE SALPETRIERE, FEDERAT NEUROL, F-75651 PARIS 13, FRANCE

[3] ULP, INSERM, IGBMC, F-67404 ILLKIRCH GRAFFENSTADEN, FRANCE

[4] UNIV COLORADO, HLTH SCI CTR, DENVER, CO 80262 USA

[5] INST NEUROL, LONDON WC1N 3BG, ENGLAND

[6] HOP SPECIAL, SERV NEUROL, RABAT, MOROCCO

来源：

NATURE GENETICS | 1997年 / 17卷 / 01期

关键词：

D O I：

10.1038/ng0997-65

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3q12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.

引用

页码：65 / 70

页数：6

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