Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac‐Saint‐Jean (Quebec, Canada)
1998; Wiley; Volume: 53; Issue: 1 Linguagem: Inglês
10.1111/j.1399-0004.1998.tb02579.x
ISSN1399-0004
AutoresMarc De Braekeleer, C. Della Man, C. Verlingue, Christian Allard, Jean‐Pierre Leblanc, Fernand Simard, G Aubin, Claude Férec,
Tópico(s)Advanced biosensing and bioanalysis techniques
ResumoOver 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.
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