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 c ystic fibrosis (CF) chromosomes in the Saguenay Lac-Saint-Jean (SLSJ) population which has a high CF incidence (1/936 live births). We ident ified 11 mutations accounting for 100% of the CF chromosomes found in patients born in SLSJ, Our results indicate that denaturing gradient g el electrophoresis (DGGE) is a powerful method of identifying CF mutat ions, They have also considerable implications for genetic counselling and molecular characterization of doubtful patients. They make carrie r screening technically feasible in this population.