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PMID: 1284639 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Detection of over 98% cystic fibrosis mutations in a Celtic population.

Nature genetics ·Vol. 1 ·No. 3 ·1992-06-00 ·Pages 188-91

Férec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C

Abstract

We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene mutations. We detected 19 different CFTR mutations located in 9 exons. Eleven of these mutations have not been described previously and nine of them are presented in this study. The denaturing gradient gel electrophoresis strategy we have used, can be applied to other populations suggesting that population screening for CF on a large scale might be possible.

Related Genes
MeSH Terms
Base Sequence Chromosome Mapping Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA/genetics DNA Mutational Analysis Ethnicity France Gene Frequency Humans Membrane Proteins/genetics Molecular Sequence Data
Chemicals
CFTR protein, human Membrane Proteins Cystic Fibrosis Transmembrane Conductance Regulator DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Férec C
Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.
Audrezet M P
Mercier B
Guillermit H
Moullier P
Quere I
Verlingue C
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
1992-06-00
Pages
188-91
Language
English
Region
United States
NLM ID
9216904
Subset
IM
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