[Gene mutations of cystic fibrosis in Brittany population].
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.
Ferec
C
C
Centre Départemental de Transfusion Sanguine, Brest, France.
Guillermit
H
H
Chaventre
A
A
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005091:Exons; D005602:France; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
Les mutations du gène de la mucoviscidose dans la population Bretonne.