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. 1996 Nov;14(3):269-76.
doi: 10.1038/ng1196-269.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

S M Pulst  1 , A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes, P DeJong, G A Rouleau, G Auburger, J R Korenberg, C Figueroa, S Sahba
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

S M Pulst et al. Nat Genet. 1996 Nov.

Abstract

The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24.1. A 1.1-megabase contig in the candidate region was assembled in P1 artificial chromosome and bacterial artificial chromosome clones. Using this contig, we identified a CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2. In contrast to other unstable trinucleotide repeats, this CAG repeat was not highly polymorphic in normal individuals. In SCA2 patients, the repeat was perfect and expanded to 36-52 repeats. The most common disease allele contained (CAG)37, one of the shortest expansions seen in a CAG expansion syndrome. The repeat occurs in the 5'-coding region of SCA2 which is a member of a novel gene family.

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Comment in

  • The expanding world of ataxins.
    Zoghbi HY. Zoghbi HY. Nat Genet. 1996 Nov;14(3):237-8. doi: 10.1038/ng1196-237. Nat Genet. 1996. PMID: 8896544 No abstract available.

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