Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis.

@article{Alluri2007MolecularAO,
  title={Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis.},
  author={Ravindra Varma Alluri and Sreelatha Komandur and Avinash Wagheray and Jaydip Ray Chaudhuri and Sitajayalakshmi and Angmuthu Kanikannan Meena and A. Fathima Jabeen and Kamalesh Chawda and Kaul Subhash and Alladi Krishnaveni and Qurratulain Hasan},
  journal={Molecules and cells},
  year={2007},
  volume={24 3},
  pages={
          338-42
        }
}
Spinocerebellar ataxias (SCAs) are caused by expansion of (CAG)n triplet repeats. These repeats occur as polymorphic forms in general population; however, beyond a threshold size they become pathogenic. The sizes and distributions of repeats at the SCA1, SCA2, SCA3, SCA7 and DRPLA loci were assessed by molecular analysis of 124 unrelated ataxia patients and 44 controls, and the association of larger normal (LN) alleles with disease prevalence was evaluated. Triplet repeat expansions in the… CONTINUE READING

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