Cystic fibrosis in the population of Reunion Island

Autor: Hillaire D, Jean Claude Chomel, Lesure F, Renouil M, Musenger C, Pierson F, Berthelon M, Lenoir G, Gérard G, Bois E
Rok vydání: 1991
Předmět:
Zdroj: Europe PubMed Central
ISSN: 0003-3995
Popis: 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.
Databáze: OpenAIRE