期刊
NATURE GENETICS
卷 37, 期 11, 页码 1253-1257出版社
NATURE PORTFOLIO
DOI: 10.1038/ng1660
关键词
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资金
- Wellcome Trust [058992] Funding Source: Medline
The hemoglobinopathies, disorders of hemoglobin structure and production, protect against death from malaria(1). In sub-Saharan Africa, two such conditions occur at particularly high frequencies: presence of the structural variant hemoglobin S and alpha(+)-thalassemia, a condition characterized by reduced production of the normal alpha-globin component of hemoglobin. Individually, each is protective against severe Plasmodium falciparum malaria(2-4), but little is known about their malaria-protective effects when inherited in combination. We investigated this question by studying a population on the coast of Kenya and found that the protection afforded by each condition inherited alone was lost when the two conditions were inherited together, to such a degree that the incidence of both uncomplicated and severe P. falciparum malaria was close to baseline in children heterozygous with respect to the mutation underlying the hemoglobin S variant and homozygous with respect to the mutation underlying alpha(+)-thalassemia. Negative epistasis could explain the failure of alpha(+)-thalassemia to reach fixation in any population in sub-Saharan Africa.
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