Authors
Brian C Verrelli, John H McDonald, George Argyropoulos, Giovanni Destro-Bisol, Alain Froment, Anthi Drousiotou, Gerard Lefranc, Ahmed N Helal, Jacques Loiselet, Sarah A Tishkoff
Publication date
2002/11/1
Journal
The American Journal of Human Genetics
Volume
71
Issue
5
Pages
1112-1128
Publisher
Elsevier
Description
Glucose-6-phosphate dehydrogenase (G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of the best examples of selection in the human genome. In the present study, we characterize the nucleotide diversity across a 5.2-kb region of G6PD in a sample of 160 Africans and 56 non-Africans, to determine how selection has shaped patterns of DNA variation at this gene. Our global sample of enzymatically normal B alleles and A, A−, and Med alleles with reduced enzyme activities reveals many previously uncharacterized silent-site polymorphisms. In comparison with the absence of amino acid divergence between human and chimpanzee G6PD sequences, we find that the number of G6PD amino acid polymorphisms in human populations is significantly high. Unlike many other G6PD-activity alleles with reduced activity, we find that the age of the A …
Total citations
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Scholar articles
BC Verrelli, JH McDonald, G Argyropoulos… - The American Journal of Human Genetics, 2002