Spinocerebellar Ataxia and HLA Linkage

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Abstract
To determine the possibility of genetic linkage of spinocerebellar ataxia with the histocompatibility loci, we performed HLA typing and linkage analysis on 19 members of a kindred in which spinocerebellar ataxia was segregating in an autosomal dominant inheritance pattern. The ataxia locus was located on chromosome 6 at 12-cM distance from the HLA complex with lod score of 3.15 (odds >1400:1 favoring linkage over chance findings). Thus, the presence of the ataxia gene in members of this kindred at risk can be predicted with about 90 per cent accuracy by means of HLA typing in informative matings. (N Engl J Med 296:1138–1141, 1977)