Frequency of the cystic fibrosis delta F508 mutation in a large sample of the French population

M Vidaud; C Ferec; O Attree; O Pascal; H Guillermit; N Ghanem; J Martin; J P Moisan; J Feingold; M Goossens

doi:10.1007/BF02428302

Frequency of the cystic fibrosis delta F508 mutation in a large sample of the French population

Hum Genet. 1990 Sep;85(4):434-5. doi: 10.1007/BF02428302.

Authors

M Vidaud¹, C Ferec, O Attree, O Pascal, H Guillermit, N Ghanem, J Martin, J P Moisan, J Feingold, M Goossens

Affiliation

¹ INSERM U 91, Hôpital Henri Mondor, Créteil, France.

PMID: 1976598
DOI: 10.1007/BF02428302

Abstract

We have determined the frequency of the cystic fibrosis (CF) delta F508 mutation in a large sample of CF patients originating from different areas of France, including the greater Paris, Brittany, Alsace, Lorraine and Rhône-Alpes regions. A total of 422 CF chromosomes were studied, and the defect was found to account for 75% of the mutant alleles. In the course of the survey, a rare nucleotide sequence polymorphism leading to an isoleucine to valine substitution at position 506 of the CF transmembrane conductance regulator protein has been characterized in an unaffected individual. Our data enable the evaluation of the probabilities that a chromosome negative for the delta F508 mutation carriers another CF defect.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
France / epidemiology
Gene Frequency
Mutation*
Polymorphism, Restriction Fragment Length