Article
Molecular and population analysis of natural selection on the human haptoglobin duplication.
Annals of human genetics - 1 Sept 2012
Rodriguez Santiago, Williams Dylan M, Guthrie Philip A I, McArdle Wendy L, Smith George Davey, Evans David M, Gaunt Tom R, Day Ian N M
Abstract excerpt
Haptoglobin binds free haemoglobin that prevents oxidative damage produced by haemolysis. There is a copy number variant (CNV) in the haptoglobin gene (HP) consisting of two alleles, Hp1 (no duplication), and Hp2 (1.7kb duplication involving two exons). The spread of the Hp2 allele is believed to have taken place under selective pressures conferred by malaria resistance. However, molecular evidence is lacking and...
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