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  • Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

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Research Article
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
  1. C Pêcheux,
  2. J F Mouret,
  3. A Dürr,
  4. Y Agid,
  5. J Feingold,
  6. A Brice,
  7. C Dodé,
  8. J C Kaplan
  1. Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France.

    Abstract

    The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.

    https://doi.org/10.1136/jmg.32.5.399

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