Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene.
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.
Beaufrère
L
L
Laboratoire de Biochimie Génétique, CNRS ERS 155, Institut de Biologie, Montpellier, France.
Rieu
S
S
Hache
J C
JC
Dumur
V
V
Claustres
M
M
Tuffery
S
S
D015794:Choroideremia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005602:France; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007438:Introns; D008297:Male; D017354:Point Mutation / Q000235:genetics; D011071:Poly T / Q000235:genetics*; D011110:Polymorphism, Genetic; D012326:RNA Splicing / Q000235:genetics*
D011071:Poly T