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

作者信息

De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc J P, Simard F, Aubin G, Férec C

机构信息

Département des Sciences Humaines, Université du Québec à Chicoutimi, Hôpital de Chicoutimi, Canada.

出版信息

Clin Genet. 1998 Jan;53(1):44-6. doi: 10.1034/j.1399-0004.1998.531530108.x.

DOI:10.1034/j.1399-0004.1998.531530108.x
PMID: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.

摘要

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