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

Nat Genet. 1992 Jun;1(3):188-91. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA / genetics
  • DNA Mutational Analysis
  • Ethnic Groups
  • France
  • Gene Frequency
  • Humans
  • Membrane Proteins / genetics
  • Molecular Sequence Data

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA