AUTOSOMAL-DOMINANT SPINOCEREBELLAR ATAXIA (SCA) IN A SIBERIAN FOUNDER POPULATION - ASSIGNMENT TO THE SCA1 LOCUS

被引：12

作者：

LUNKES, A ^{[1
]}

GOLDFARB, LG ^{[1
]}

PLATONOV, FA ^{[1
]}

ALEXEEV, VP ^{[1
]}

DUENASBARAJAS, E ^{[1
]}

GAJDUSEK, DC ^{[1
]}

AUBURGER, G ^{[1
]}

机构：

[1] NINCDS, BETHESDA, MD 20892 USA

来源：

EXPERIMENTAL NEUROLOGY | 1994年 / 126卷 / 02期

关键词：

D O I：

10.1006/exnr.1994.1070

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

In seven families from a Siberian founder population with autosomal dominant spinocerebellar ataxia (SCA) genetic analysis of the polymorphisms flanking the SCA1 locus on chromosome 6p showed allelic association with disease inheritance. While the association was absolute in the case of microsatellite D6S274, an allele switch was observed for D6S89 in two families, suggesting a historic recombinant. Further genetic and physical study of this recombinant event could be instrumental for the precise localization and identification of the SCA1 gene. (C) 1994 Academic Press, Inc.

引用

页码：310 / 312

页数：3

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