title: 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.
authors.affiliation: Department of Neurology, University of Dusseldorf, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Lunkes
authors.forename: L G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: F A
authors.initials: FA
authors.lastname: Platonov
authors.forename: V P
authors.initials: VP
authors.lastname: Alexeev
authors.forename: E
authors.initials: E
authors.lastname: Duenas-Barajas
authors.forename: D C
authors.initials: DC
authors.lastname: Gajdusek
authors.forename: G
authors.initials: G
authors.lastname: Auburger
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D012800:Siberia; D013132:Spinocerebellar Degenerations / Q000235:genetics*