title: Detection of over 98% cystic fibrosis mutations in a Celtic population.
abstract: We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene mutations. We detected 19 different CFTR mutations located in 9 exons. Eleven of these mutations have not been described previously and nine of them are presented in this study. The denaturing gradient gel electrophoresis strategy we have used, can be applied to other populations suggesting that population screening for CF on a large scale might be possible.
authors.affiliation: Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: M P
authors.initials: MP
authors.lastname: Audrezet
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: H
authors.initials: H
authors.lastname: Guillermit
authors.forename: P
authors.initials: P
authors.lastname: Moullier
authors.forename: I
authors.initials: I
authors.lastname: Quere
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005006:Ethnicity; D005602:France; D005787:Gene Frequency; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA