OBJECTIVETo detect the level of glucose-6-phosphate dehydrogenase (G-6-PD) mRNA expression in children with G-6-PD deficiency and their lineal family members in order to explore possible mechanisms of the disease at the transcriptional level.

METHODSRNA was extracted from peripheral blood of 41 children with G-6-PD deficiency and of their lineal family members (29 father lineages and 40 mother lineages). cDNA was then harvested using the reverse transcription method. G-6-PD mRNA expression was detected by quantitative real-time PCR (QRT-PCR). The detection results of G-6-PD mRNA expression in three groups (Patient, Father lineage and Mother lineage) were compared using Statistical Software SPSS 10.0 system.

RESULTSThe mean G-6-PD mRNA value in the Patient, Father lineage and Mother lineage groups were 0.57 +/- 0.19, 0.74 +/- 0.21 and 0.67 +/- 0.21 respectively. The G-6-PD mRNA value in the Patient group was significantly lower than both Father lineage (t = -3.18, P < 0.01) and Mother lineage groups (t = -2.54, P < 0.05).

CONCLUSIONSThe expression of G-6-PD mRNA decreased in children with G-6-PD deficiency, suggesting that the pathogenesis of this disorder relates to the varying levels of gene transcription.