摘要
目的检测葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患者及其家系成员的G-6-PDmRNA表达水平,从转录水平探讨其可能的发病机制。方法提取G-6-PD缺乏症患者及其直系家属(患者父亲和/或母亲等)外周血RNA,采用逆转录方法形成cDNA后,运用逆转录实时定量PCR(QuantitativeReal-TimePCR,QRT-PCR)技术,测定G-6-PDmRNA的表达量。使用SPSS10.0统计分析软件将3组进行组间两两比较。结果G-6-PD缺乏症患儿组mRNA表达量为0.57±0.19,父系组为0.74±0.21,母系组为0.67±0.21,患儿组与父系组比较t=-3.18,(P<0.01);与母系组比较t=-2.54,(P<0.05)。结论G-6-PD缺乏症患者的G-6-PD基因发生突变后其G-6-PDmRNA表达量发生了改变,提示该病的发生与在转录水平上发生变化有关,在G-6-PD缺乏症的发病过程中起到一定的作用。
Objective To 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. Methods RNA 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. Results The 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 ）. Conclusions The 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.
出处
《中国当代儿科杂志》
CAS
CSCD
2006年第5期385-387,共3页
Chinese Journal of Contemporary Pediatrics
基金
深圳市卫生局科研基金项目(编号:20004009)
