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Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac‐Saint‐Jean (Quebec, Canada)
Author(s) -
Braekeleer Marc De,
Man Cécile,
Verlingue Claudine,
Allard Christian,
Leblanc JeanPierre,
Simard Fernand,
Aubin Gervais,
Férec Claude
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02579.x
Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , saint , regulator , genetics , identification (biology) , mutation , population , biology , medicine , gene , ecology , history , environmental health , art history
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.