Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Haemoglobin S (HbS) and C (HbC) are variants of the HBB gene which both protect against malaria. It is not clear, however, how these two alleles have evolved in the West African countries where they co-exist at high frequencies. Here we use haplotypic signatures of selection to investigate the evolutionary history of the malaria-protective alleles HbS and HbC in the Kassena-Nankana District (KND) of Ghana.The haplotypic structure of HbS and HbC alleles was investigated, by genotyping 56 SNPs around the HBB locus. We found that, in the KND population, both alleles reside on extended haplotypes (approximately 1.5 Mb for HbS and 650 Kb for HbC) that are significantly less diverse than those of the ancestral HbA allele. The extended haplotypes span a recombination hotspot that is known to exist in this region of the genomeOur findings show strong support for recent positive selection of both the HbS and HbC alleles and provide insights into how these two alleles have both evolved in the population of northern Ghana.

Original publication

DOI

10.1371/journal.pone.0034565

Type

Journal article

Journal

Plos one

Publication Date

01/2012

Volume

7

Addresses

Noguchi Memorial Institute for Medical Research, University of Ghana, Accra, Ghana. AGhansah@noguchi.mimcom.org

Keywords

Humans, Malaria, Hemoglobin A, Hemoglobin C, Hemoglobin, Sickle, Case-Control Studies, Evolution, Molecular, Recombination, Genetic, Gene Frequency, Haplotypes, Polymorphism, Single Nucleotide, Alleles, Ethnic Groups, Ghana, beta-Globins, Genetic Loci, Genotyping Techniques