[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.
Centre Départemental de Transfusion Sanguine, Brest, France.
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C
Ferec
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H
Guillermit
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Chaventre
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.