title: Glucose-6 phosphate dehydrogenase deficiency: an easy and sensitive quantitative assay for the detection of female heterozygotes in red blood cells.
abstract: Different methods for the quantitative determination of glucose-6-phosphate dehydrogenase (G-6-PD) were compared and one of them found to be highly precise. Maleimide inactivation of 6-phosphogluconate dehydrogenase (PGD) was investigated. It was shown that this inactivation is time-dependent and causes loss of assay precision. The most precise method was adapted to lysates of red blood cells from females, known to be heterozygote for G-6-PD deficiency and from non-deficient males and females. Heterozygote gene carriers were detected at a rate of 97.0%.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006580:Genetic Carrier Screening; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008301:Maleimides / Q000494:pharmacology; D010734:Phosphogluconate Dehydrogenase / Q000037:antagonists & inhibitors; D012016:Reference Values
chemical_list: D008301:Maleimides; C043592:maleimide; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase