A common disease haplotype segregating in Spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

Pang, Joanna ; Allotey, Rebecca ; Wadia, Noshir ; Sasaki, Hidenao ; Bindoff, Laurence ; Chamberlain, Susan (1999) A common disease haplotype segregating in Spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin European Journal of Human Genetics, 7 (7). pp. 841-845. ISSN 1018-4813

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Official URL: http://www.nature.com/ejhg/journal/v7/n7/abs/52003...

Abstract

The identification of a CAG trinucleotide repeat expansion, located within the coding sequence of the ataxin-2 gene, as the mutation underlying spinocerebellar ataxia 2 (SCA2) has facilitated direct investigation of pedigrees previously excluded from linkage analysis due to insufficient size or pedigree structure. We have previously described the identification of the ancestral disease haplotype segregating in the Cuban founder population used to assign the disease locus to chromosome 12q23-24.1. We now report evidence for the segregation of the identical core haplotype in pedigrees of diverse ethnic origin from India, Japan and England, established by the analysis of the loci D12S1672 and D12S1333 located 20 kb proximal and 200 kb distal to the triplet repeat motif respectively. Interpretation of this data is suggestive that for these pedigrees at least, the mutation has arisen on a single ancestral or predisposing chromosome.

Item Type:Article
Source:Copyright of this article belongs to Nature Publishing Group.
Keywords:Spinocerebellar ataxia-2; Common Haplotype
ID Code:68764
Deposited On:05 Nov 2011 03:42
Last Modified:05 Nov 2011 03:42

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