Intriguing association between disease associated unstable trinucleotide repeat and CpG island.

Ann Genet

INSERM. U 383, Hôpital Necker-Enfants Malades, Université René, Paris V, France.

Published: September 1997

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.

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