[Gene mutations of cystic fibrosis in Brittany population]

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.