title: [Rapid genetic diagnosis of females carriers related to patients with choroideremia].
abstract: OBJECTIVE
  By using the single strand conformation analysis to search for point mutations in the choroideremia gene, we had previously identified the first truncative mutation responsible for CHM in France. The aim of the present study was to perform a simple and nonisotopic routine test to identify carriers and non carriers in the relevant family.
  
  
  METHODS
  We used a PCR-based restriction analysis to detect the presence or absence of the mutation in the family members, as the mutation creates a restriction site in the coding sequence of the CHM gene.
  
  
  RESULTS
  We could follow the segregation of the mutation in the pedigree, and unambiguously determine the genetic status of the females.
  
  
  CONCLUSIONS
  When a mutation responsible for choroideremia modifies a restriction site, the PCR-restriction provides an efficient and unexpensive one-day test to detect heterozygosity in the family.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR-9008, Institut de Biologie, CHU de Montpellier.
authors.forename: L
authors.initials: L
authors.lastname: Beaufrère
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: D002353:Carrier State; D015794:Choroideremia / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D013997:Time Factors
vernacular_title: Diagnostic génétique rapide des femmes conductrices apparentées à des sujets atteints de choroïdérémie.