title: An exonic polymorphism (381A/G) in the choroideremia gene.
abstract: By using the single strand conformational analysis (SSCA) to search for point mutations in the choroideremia gene, we have identified a previously undescribed polymorphism within exon 5a (381A/G). We have studied the frequency of this polymorphism in a population from Southern France. The sequence variation creates a new restriction site for HhaI, allowing a convenient DNA-based genetic counseling in families in which the causal disease mutation is unknown.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR-9008, Institut de Biologie, France.
authors.forename: L
authors.initials: L
authors.lastname: Beaufrere
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: C
authors.initials: C
authors.lastname: Hamel
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D015794:Choroideremia / Q000235:genetics*; D005091:Exons; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D014960:X Chromosome