Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).
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.
De Braekeleer
M
M
Département des Sciences Humaines, Université du Québec à Chicoutimi, Hôpital de Chicoutimi, Canada.
Mari
C
C
Verlingue
C
C
Allard
C
C
Leblanc
J P
JP
Simard
F
F
Aubin
G
G
Férec
C
C
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011153:Population; D011792:Quebec
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator