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 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 SLS...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 1998, Vol.53 (1), p.44-46
Main Authors: DE BRAEKELEER, M, MARI, C, VERLINGUE, C, ALLARD, C, LEBLANC, J.-P, SIMARD, F, AUBIN, G, FEREC, C
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Gastroenterology. Liver. Pancreas. Abdomen
Genotype
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Medical sciences
Mutation
Other diseases. Semiology
Population
Quebec
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.1998.531530108.x