title: Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.
abstract: A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diagnosis becomes possible in 84% of cases. Only 1.19% of cases negative for the nine mutations have CF. The results of molecular analysis in this population have useful implications in respect of diagnosis validation and population carrier screening.
authors.affiliation: Paediatric Genetics Unit, Royal Manchester Children's Hospital, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Super
authors.forename: M J
authors.initials: MJ
authors.lastname: Schwarz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D004739:England; D005784:Gene Amplification; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping