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A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection

October 15, 2010 - 15:00 -- Patrick Sampao
Somosree Sarkar, Nidhan K. Biswas, Badal Dey, Debashis Mukhopadhyay, Partha P. Majumder
Infection, Genetics and Evolution, Volume 10, Issue 8, December 2010, Pages 1228-1236

Our study has identified one new exonic variant (M159I; exon-5), occurring in multiple populations, that is predicted to result in G6PD deficiency.

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Glucose-6-phosphate Dehydrogenase Deficiency and Malaria: Cytochemical Detection of Heterozygous G6PD Deficiency in Women

October 25, 2009 - 16:51 -- Bart G.J. Knols
Anna L. Peters and Cornelis J.F. Van Noorden
J. Histochem. Cytochem. 2009; 57:1003-1011

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder of the erythrocyte that affects 400 million people worldwide. Diagnosis of heterozygously-deficient women is complicated: as a result of lyonization, these women have a normal and a G6PD-deficient population of erythrocytes. The cytochemical assay is the only reliable assay to discriminate between heterozygously-deficient women and non-deficient women or homozygously-deficient women. G6PD deficiency is mainly found in areas where malaria is or has been endemic.

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