Detection of over 98% cystic fibrosis mutations in a Celtic population
- 1 June 1992
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 1 (3) , 188-191
- https://doi.org/10.1038/ng0692-188
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.Keywords
This publication has 37 references indexed in Scilit:
- Cluster of cystic fibrosis cases in a limited area of Brittany (France)Clinical Genetics, 2008
- Mutations of the cystic fibrosis gene locus within the population of the Northwest of EnglandEuropean Journal of Pediatrics, 1992
- Screening for carriers of cystic fibrosis through primary health care services.BMJ, 1991
- A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant deathGenomics, 1991
- The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequencesGenomics, 1991
- A frame-shift mutation in the cystic fibrosis geneNature, 1990
- CF Screening Delayed for Awhile, Perhaps ForeverScience, 1990
- CF screeningNature, 1990
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviorGenomics, 1989