title: Genotype analysis of adult cystic fibrosis patients.
abstract: To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patients and clinical data regarding pancreatic, respiratory and reproductive function were carefully evaluated. All these patients are compound heterozygote, seven carrying the delta F508 and one the G542X on one allele. The other allele carried is: (i) a missense mutation located in exons coding for transmembrane region in five patients [R334W (1); I336K (2); R117H (1); H1054D (1)]; (ii) a splice mutation in two patients [2789 + 5G-->A], (iii) an uncharacterised mutations in one patient. These results strongly suggest less severe CF phenotype to be associated with these mutations and strengthen the hypothesis that less severe phenotype are genetically determined.
authors.affiliation: Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: H
authors.initials: H
authors.lastname: Guillermit
authors.forename: I
authors.initials: I
authors.lastname: Quéré
authors.forename: O
authors.initials: O
authors.lastname: Raguénès
authors.forename: J
authors.initials: J
authors.lastname: Feigelson
authors.forename: M P
authors.initials: MP
authors.lastname: Audrézet
authors.forename: P
authors.initials: P
authors.lastname: Moullier
authors.forename: B
authors.initials: B
authors.lastname: Mercier
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010179:Pancreas / Q000503:physiopathology; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator