Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
AUTOR(ES)
Pêcheux, C
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050439Documentos Relacionados
- Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes.
- Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.
- Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.
- Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.