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      Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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          Abstract

          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

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          Author and article information

          Journal
          Nat Genet
          Nature genetics
          Springer Science and Business Media LLC
          1061-4036
          1061-4036
          Jul 1993
          : 4
          : 3
          Affiliations
          [1 ] Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.
          Article
          10.1038/ng0793-221
          8358429
          fb04c793-3b15-4398-9a77-7fd1e9d267d3
          History

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