title: Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
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.
authors.affiliation: Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France.
authors.forename: C
authors.initials: C
authors.lastname: Pêcheux
authors.forename: J F
authors.initials: JF
authors.lastname: Mouret
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: C
authors.initials: C
authors.lastname: Dodé
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
mesh_terms: D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers