title: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
abstract: To determine cystic fibrosis (CF) defects in a sample of 224 non-delta F508 CF chromosomes, we used denaturing gradient gel multiplex analysis of CF transmembrane conductance regulator gene segments, a strategy based on blind exhaustive analysis rather than a search for known mutations. This process allowed us to detect 11 novel variations comprising two nonsense mutations (Q890X and W1204X), a splice defect (405 + 4 A-->G), a frameshift (3293delA), four presumed missense mutations (S912L, H949Y, L1065P, Q1071P), and three sequence polymorphisms (R31C or 223 C/T, 3471 T/C, and T1220I or 3791 C/T). We describe these variations, together with the associated phenotype when defects on both CF chromosomes were identified.
authors.affiliation: Laboratoire de Génétique Moléculaire, INSERM U91, Hôpital Henri Mondor, Créteil, France.
authors.forename: N
authors.initials: N
authors.lastname: Ghanem
authors.forename: B
authors.initials: B
authors.lastname: Costes
authors.forename: E
authors.initials: E
authors.lastname: Girodon
authors.forename: J
authors.initials: J
authors.lastname: Martin
authors.forename: P
authors.initials: P
authors.lastname: Fanen
authors.forename: M
authors.initials: M
authors.lastname: Goossens
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator