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. 1994 Jul;94(1):101-3.
doi: 10.1007/BF02272853.

A novel mosaic Bantu/Benin/Bantu beta s haplotype found in several African populations

I Gonçalves  1 , J Gonçalves, B Périchon, L Osório-Almeida, R Krishnamoorthy, J Lavinha
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A novel mosaic Bantu/Benin/Bantu beta s haplotype found in several African populations

I Gonçalves et al. Hum Genet. 1994 Jul.

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 the RsaI polymorphism 5' to the beta globin gene was observed in four patients. Extensive typing of the corresponding beta s 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 beta 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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