Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene

L Beaufrère; S Rieu; J C Hache; V Dumur; M Claustres; S Tuffery

Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene

Genet Couns. 1998;9(4):255-7.

Authors

L Beaufrère¹, S Rieu, J C Hache, V Dumur, M Claustres, S Tuffery

Affiliation

¹ Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.

PMID: 9894161

Abstract

By using the single strand conformational analysis to search for point mutations in the choroideremia gene, we have identified an intronic polymorphism within the intron 2 of the CHM gene. We have studied the frequency of this polymorphism in the population from South of France.

MeSH terms

Choroideremia / diagnosis
Choroideremia / genetics*
Exons / genetics*
Female
France
Gene Frequency / genetics
Humans
Introns
Male
Point Mutation / genetics
Poly T / genetics*
Polymorphism, Genetic
RNA Splicing / genetics*

Substances

Poly T