Ontology highlight
ABSTRACT: Background
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.Methodology/principal findings
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 genomeSignificance
Our 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.
SUBMITTER: Ghansah A
PROVIDER: S-EPMC3323552 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Ghansah Anita A Rockett Kirk A KA Clark Taane G TG Wilson Michael D MD Koram Kwadwo A KA Oduro Abraham R AR Amenga-Etego Lucas L Anyorigiya Thomas T Hodgson Abraham A Milligan Paul P Rogers William O WO Kwiatkowski Dominic P DP
PloS one 20120410 4
<h4>Background</h4>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.<h4>Methodology/principal findings</h4>The haplotypic structure of HbS a ...[more]