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

J Med Genet. 1995 May;32(5):399-400. doi: 10.1136/jmg.32.5.399.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA Primers / chemistry
  • DNA Primers / genetics
  • Humans
  • Huntington Disease / genetics*
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Sequence Analysis, DNA

Substances

  • DNA Primers