Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations.

摘要: The sickle (βs) mutation in the beta-globin gene (HBB) occurs on five "classical" βs haplotype backgrounds ethnic groups of African ancestry. Strong selection favour allele – a consequence protection from severe malarial infection afforded by heterozygotes has been associated with high degree extended similarity. relationship between classical haplotypes and long-range similarity may have both anthropological clinical implications, but to date not explored. Here we evaluate over 400 kb population samples Jamaica, Gambia, among Yoruba Nigeria (Hapmap YRI). most common sub-haplotype Jamaicans was Benin haplotype, while Gambia Senegal observed commonly. Both subtypes exhibited extending across approximately all three populations. This significantly greater than that seen for other sampled these populations (P < 0.001), independent marker choice density. Among Yoruba, were highly conserved, very strong linkage disequilibrium (LD) megabase mutation. Two different haplotypes, populations, exhibit comparable extensive LD. LD extends adjacent recombination hotspot, is discernable at distances excess kb. Although multi-centric geographic distribution indicates subdivision early Holocene sub-Saharan find no evidence selective pressures imposed falciparum malaria varied intensity or timing subpopulations. Our observations also suggest cis-acting loci, which influence outcomes cell disease, could lie considerable away β-globin.