title: Cystic fibrosis in the population of Reunion Island.
abstract: The frequencies of the delta F 508 mutation and haplotypes linked to the cystic fibrosis (CF) gene and detected with DNA probes XV-2C and KM-19 have been studied in the population of Reunion Island, a French province located in the Indian Ocean. The deletion was present in 41.3% of CF chromosomes, whereas this proportion is about 70% in the French population. The delta F 508 mutation was associated with the haplotype B defined by the DNA markers XV-2C (allele 1) and KM-19 (allele 2) in 76.4% of CF chromosomes, while this proportion is over 90% in the French population. Founder effect, genetic drift and admixture can explain these differences.
authors.affiliation: Centre de Transfusion Sanguine, Centre Hospitalier Regional E. Guyon, Saint-Denis, France.
authors.forename: D
authors.initials: D
authors.lastname: Hillaire
authors.forename: J C
authors.initials: JC
authors.lastname: Chomel
authors.forename: F
authors.initials: F
authors.lastname: Lesure
authors.forename: M
authors.initials: M
authors.lastname: Renouil
authors.forename: C
authors.initials: C
authors.lastname: Musenger
authors.forename: F
authors.initials: F
authors.lastname: Pierson
authors.forename: M
authors.initials: M
authors.lastname: Berthelon
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
authors.forename: G
authors.initials: G
authors.lastname: Gérard
authors.forename: E
authors.initials: E
authors.lastname: Bois
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D015342:DNA Probes; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007195:Indian Ocean Islands / Q000453:epidemiology; D015810:Linkage Disequilibrium
chemical_list: D015342:DNA Probes; D005819:Genetic Markers