Gene mutations of cystic fibrosis in Brittany population
Ferec, C.; Guillermit, H.; Chaventre, A.
Pathologie-Biologie 39(6): 577-580
1991
ISSN/ISBN: 0369-8114 PMID: 1923586 Document Number: 381038
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.