title: Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).
abstract: Over the past few years, we have conducted a systematic study of 230 cystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We identified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ. Our results indicate that denaturing gradient gel electrophoresis (DGGE) is a powerful method of identifying CF mutations. They have also considerable implications for genetic counselling and molecular characterization of doubtful patients. They make carrier screening technically feasible in this population.
authors.affiliation: Département des Sciences Humaines, Université du Québec à Chicoutimi, Hôpital de Chicoutimi, Canada.
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: C
authors.initials: C
authors.lastname: Mari
authors.forename: C
authors.initials: C
authors.lastname: Verlingue
authors.forename: C
authors.initials: C
authors.lastname: Allard
authors.forename: J P
authors.initials: JP
authors.lastname: Leblanc
authors.forename: F
authors.initials: F
authors.lastname: Simard
authors.forename: G
authors.initials: G
authors.lastname: Aubin
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011153:Population; D011792:Quebec
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator