Abstract
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 sickle cell gene.
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Gonçalves, I., Gonçalves, J., Périchon, B. et al. A novel mosaic Bantu/Benin/Bantu βs haplotype found in several African populations. Hum Genet 94, 101–103 (1994). https://doi.org/10.1007/BF02272853
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DOI: https://doi.org/10.1007/BF02272853