Intriguing association between disease associated unstable trinucleotide repeat and CpG island

Ann Genet. 1997;40(2):73-7.

Abstract

Expansion of (C+G)-rich trinucleotide repeats has been shown to be associated with several autosomal or X-linked genetic diseases and/or fragile sites. By analysing the sequences available in the databases, we found, in a significant proportion of triplet associated genes or fragile sites (11/12), a CpG island close to the trinucleotide repeat. This association led us to assume that flanking regions and chromatin structure near the triplets might play a role in repeat instability.

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • CpG Islands*
  • Genetic Linkage
  • Humans
  • Sex Chromosome Aberrations / genetics*
  • Trinucleotide Repeats*
  • X Chromosome*