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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Authors: | C Pêcheux JF Mouret A Dürr Y Agid J Feingold A Brice C Dodé JC Kaplan |
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Affiliation: | Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France. |
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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. |
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