Referenced in: none

Automatically associated channels: Kir6.2

Title: Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).

Authors: M De Braekeleer, C Mari, C Verlingue, C Allard, J P Leblanc, F Simard, G Aubin, C Ferec

Journal, date & volume: Clin. Genet., 1998 Jan , 53, 44-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9550360

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.