title: Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.
abstract: Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus (XV2C and KM19 markers). The respective frequencies of the mutations showed that 9 of them account for 80% of the CF chromosomes. Implications for prenatal diagnosis and heterozygote detection are defined and discussed. The well-known great excess of RFLP B marker within CF chromosomes is partially explained by two already characterized mutations highly associated with haplotype B: delta F508 and G542X. Similarly, the excess of haplotype D within CF chromosomes is partially explained by the association between delta I507 and this haplotype. These results may suggest the existence of two still untested or uncharacterized mutations, whose frequencies could be near 1%, one which would be associated with haplotype B and a second which would be associated with haplotype D. The possible cause of the specific association between most of the main different CF mutations and the RFLP haplotype B is discussed.
authors.affiliation: Laboratoire de Pathologie Foetale, INSERM U.73, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: E
authors.initials: E
authors.lastname: Mornet
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
authors.forename: A
authors.initials: A
authors.lastname: Taillandier
authors.forename: J
authors.initials: J
authors.lastname: Boué
authors.forename: A
authors.initials: A
authors.lastname: Boué
mesh_terms: D000483:Alleles; D015139:Blotting, Southern; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D005602:France / Q000453:epidemiology; D005796:Genes; D006580:Genetic Carrier Screening; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D009841:Oligonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator