Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
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.
Pêcheux
C
C
Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France.
Mouret
J F
JF
Dürr
A
A
Agid
Y
Y
Feingold
J
J
Brice
A
A
Dodé
C
C
Kaplan
J C
JC
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
D017931:DNA Primers