title: Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.
abstract: A sample of 235 individuals from 49 French cystic fibrosis (CF) families with at least one living affected child was typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, and was screened for the delta F508 mutation. Using a combination of six probes, 44 out of the 49 families were sufficiently informative to enable prenatal diagnosis or carrier determination. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV2c: allele 1; KM19: allele 2), which accounts for about 78% of CF chromosomes in our families. The delta F508 deletion was present in 64.3% of CF chromosomes.
authors.affiliation: INSERM U 249, CNRS UPR 8402, Montpellier, France.
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: P
authors.initials: P
authors.lastname: Kjellberg
authors.forename: H
authors.initials: H
authors.lastname: Bellet
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length