|
|||||
|
|
Glucose-6 phosphate dehydrogenase deficiency: an easy and sensitive quantitative assay for the detection of female heterozygotes in red blood cells |
|
| Authors: | E Solem |
| Affiliation: | Center of Pediatrics, University Hospital of Frankfurt am Main FRG |
| 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%. |
| Keywords: | glucose-6-phosphate dehydrogenase deficiency Heterozygote detection Method no. 1 = kit-method Method no. 2 = method no. 1 with addition of maleimide Method no. 3 = WHO method Method no. 4 = Glock and Mclean method G-6-PD glucose-6-phosphate dehydrogenase G-6-P glucose-6-phosphate HBDH α-hydroxybutyrate dehydrogenase LDH lactate dehydrogenase NADP nicotinamide-adenine dinucleotide phosphate NEM PGA 6-phosphogluconic acid PGD 6-phosphogluconate dehydrogenase |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |