Cystic fibrosis in the population of Reunion Island.
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.
Hillaire
D
D
Centre de Transfusion Sanguine, Centre Hospitalier Regional E. Guyon, Saint-Denis, France.
Chomel
J C
JC
Lesure
F
F
Renouil
M
M
Musenger
C
C
Pierson
F
F
Berthelon
M
M
Lenoir
G
G
Gérard
G
G
Bois
E
E
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
D015342:DNA Probes; D005819:Genetic Markers