[Gene mutations of cystic fibrosis in Brittany population]

Pathol Biol (Paris). 1991 Jun;39(6):577-80.
[Article in French]

Abstract

Eighty percent of chromosomes from cystic fibrosis children in Brittany exhibit the major gene mutation (delta F 508) consisting in deletion of three nucleotide pairs. Eighty-seven chromosomes without the delta F 508 mutation were studied for as yet undescribed gene mutations. A large number of mutations were located in exons 10 and 11. Consequently, a global strategy for identifying mutations in these exons was developed. Analysis of pedigrees of cystic fibrosis patients in Brittany evidenced a clear founder effect. Appropriate prevention strategies will therefore be developed.

Publication types

  • English Abstract

MeSH terms

  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Exons
  • France
  • Humans
  • Mutation / genetics*
  • Pedigree