title: Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.
abstract: We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Blindern, Oslo, Norway.
authors.forename: K
authors.initials: K
authors.lastname: Eiklid
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: H G
authors.initials: HG
authors.lastname: Eiken
authors.forename: J C
authors.initials: JC
authors.lastname: Pedersen
authors.forename: H
authors.initials: H
authors.lastname: Michalsen
authors.forename: G
authors.initials: G
authors.lastname: Fluge
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: B R
authors.initials: BR
authors.lastname: Nilsen
authors.forename: R
authors.initials: R
authors.lastname: Bolle
authors.forename: D
authors.initials: D
authors.lastname: Skyberg
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009664:Norway; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator