title: Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
abstract: A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI. We have used this strategy to detect the two most frequent mutations in this area: delta F508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population.
authors.affiliation: Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: S
authors.initials: S
authors.lastname: Bousquet
authors.forename: C
authors.initials: C
authors.lastname: Herbulot
authors.forename: F
authors.initials: F
authors.lastname: Cartault
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
mesh_terms: D000328:Adult; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005602:France / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific