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

被引：20

作者：

De Braekeleer, M

Mari, C

Verlingue, C

Allard, C

Leblanc, JP

Simard, F

Aubin, G

Ferec, C

机构：

[1] Univ Quebec, Dept Sci Humaines, Lab Rech Fibrose Kyst, Quebec City, PQ G7H 2B1, Canada

[2] Hop Chicoutimi, Clin Fibrose Kyst, Quebec City, PQ, Canada

[3] Etab Transfus Sanguine Bretagne Occidentale, Brest, France

来源：

CLINICAL GENETICS | 1998年 / 53卷 / 01期

关键词：

denaturing gradient gel electrophoresis; CFTR mutations; cystic fibrosis; prevalence; French Canadian;

D O I：

10.1034/j.1399-0004.1998.531530108.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：44 / 46

页数：3

共 17 条

[1] IDENTIFICATION OF 12 NOVEL MUTATIONS IN THE CFTR GENE [J].