A novel mosaic Bantu/Benin/Bantu βshaplotype found in several African populations

摘要

In a survey of the chromosomal backgrounds associated with the sickle cell gene in Portuguese-speaking populations from Europe and Africa, a discordance between the classical haplotype and the predicted allele at theRsaI polymorphism 5′ to the β globin gene was observed in four patients. Extensive typing of the corresponding βs chromosomes at simple polymorphic repeat motifs revealed a novel “extended” haplotype that appeared to be a mosaic of (1) a Bantu-type DNase I hypersensitive site 2 within the β globin gene cluster locus control region, (2) a Benin 5′ subhaplotype, and (3) a Bantu 3′ subhaplotype. We propose two alternative schedules for the generation of yet another chromosomal background of the sick