A RAPID, EFFICIENT, AND SENSITIVE ASSAY FOR SIMULTANEOUS DETECTION OF MULTIPLE CYSTIC-FIBROSIS MUTATIONS

被引：69

作者：

COSTES, B ^{[1
]}

FANEN, P ^{[1
]}

GOOSSENS, M ^{[1
]}

GHANEM, N ^{[1
]}

机构：

[1] CHU HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE

来源：

HUMAN MUTATION | 1993年 / 2卷 / 03期

关键词：

CYSTIC FIBROSIS; PCR; DGGE; MULTIPLEX;

D O I：

10.1002/humu.1380020306

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe the use of DGGE multiplex systems for rapid analysis of 15 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, in which about half of the known CF molecular defects are clustered. We have previously determined the spectrum of mutations affecting the CFTR gene in the French population using a strategy based on denaturing gradient gel electrophoresis (DGGE) of amplified gene segments. Analysis of CF patients' DNA with five DGGE multiplex systems permitted us to characterize nearly 35% of non-DELTAF508 CF alleles and increased the CF allele detection rate to almost 82% in this population. This simple and rapid multiplex analysis strategy, which allows a significant proportion of the most frequent CF mutations in Caucasians to be detected, will be helpful in the implementation of genetic screening programs. (C) 1993 Wiley-Liss, Inc.

引用

页码：185 / 191

页数：7

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