Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez S
PROVIDER: S-EPMC3963445 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Rodriguez Santiago S Williams Dylan M DM Guthrie Philip A I PA McArdle Wendy L WL Smith George Davey GD Evans David M DM Gaunt Tom R TR Day Ian N M IN
Annals of human genetics 20120521 5
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 Hp did not emerge in genomewide SNPs surveys for evidence of selection. In Europe, ...[more]