Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus.

Abstract:

: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.

journal_name

Exp Neurol

journal_title

Experimental neurology

authors

Lunkes A,Goldfarb LG,Platonov FA,Alexeev VP,Duenas-Barajas E,Gajdusek DC,Auburger G

doi

10.1006/exnr.1994.1070

subject

Has Abstract

pub_date

1994-04-01 00:00:00

pages

310-2

issue

2

eissn

0014-4886

issn

1090-2430

pii

S0014-4886(84)71070-3

journal_volume

126

pub_type

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