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Beta-globin gene haplotypes and selected Malaria-associated variants among black Southern African populations

  • G. D. Pule (a1), E. R. Chimusa (a1), K. Mnika (a1), K. Mhandire (a2), E. Kampira (a3), C. Dandara (a1) and A. Wonkam (a1)...
Abstract

Partial carrier-resistance to Plasmodium falciparum malaria conferred by the sickle cell (HbS) mutation has resulted in the local amplification and positive selection of sickle cell disease (SCD) in malaria-endemic regions and particularly in sub-Saharan Africa (SSA). The present study investigated the β-globin gene haplotypes, and selected malaria-associated variants among three cohorts of Bantu-speaking individuals from Malawi, Zimbabwe and South Africa compared with reports with data from others SSA populations. The data suggest a south-ward frequency decrease of malaria-associated variants in SSA linked to the evolutionary dynamics of various African populations’ genomes through selective pressure of malaria. These selected genomics differences, positive selection of SCD in malaria-endemic regions among ‘Bantus’ from various part of Africa emphasise the evidence of the dissociation between genetics, anthropology and culture. The present study also showed a relatively prevalent Benin haplotype, which is mostly found in West Africa, among Southern African Blacks and very low Bantu haplotype, which could suggest a major migration route, of Southern Africa Bantu, along the African west coast, post-occurrence of the Sickle cell mutation, which date remain to be fully elucidated.

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Copyright
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited
Corresponding author
*Address for correspondence: Professor A. Wonkam, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Anzio Road, Observatory, 7925, Cape Town, Republic of South Africa. (Email: ambroise.wonkam@uct.ac.za)
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