摘要
目的:研究不同孕周神经管畸形(NTD)胎儿孕妇胎盘中印迹基因H19,PEG10和IGF2基因启动子区的甲基化状态,分析其与NTD的关系。方法:应用MethyLight方法实时定量检测不同孕周28例NTD患儿孕母胎盘和28例正常对照乳母胎盘中印迹基因H19,PEG10和IGF2启动子区的甲基化状态。结果:印迹基因H19,PEG10和IGF2启动子区在胎盘中普遍发生甲基化,而且在NTD患儿孕母胎盘中,H19,PEG10和IGF2中甲基化率略高于正常乳母胎盘组,但无统计学差异。将样品按照不同孕周分组后,IGF2基因启动子区甲基化水平在31～36周NTD胎儿乳母胎盘中显著高于正常胎儿乳母胎盘(P<0.05)。结论:印迹基因H19,PEG10和IGF2启动子区在所检测的NTD患儿孕妇的胎盘中总体甲基化水平与正常胎儿乳母胎盘无差异。但在妊娠31～36周时,NTD胎儿乳母胎盘中IGF2启动子甲基化水平显著高于正常胎儿乳母胎盘,提示印迹基因IGF2的甲基化状态可能与NTD的发生有关。
Objective： To investigate the methylation status of genetic imprinted genes H19, PEG10 and IGF2 in the placenta of women with a fetus of neural tube defects （NTDs） at the different gestational weeks and its role in the development of NTDs. Methods： The methylation of genetic imprinted genes H19,PEG10 and IGF2 was detected with the Taqman probe based real -time PCR （Methylight） technology in placenta of 28 active NTDs patients （case group） and 28 healthy controls of dif- ferent gestational weeks. Results ： The methylation of genetic imprinted genes H19, PEG10 and IGF2 was generally detected in the placenta of 28 active NTDs patients and 28 healthy controls. The rate of PEG10 or IGF2 gene hypermethylation in the case group was slightly higher than that of controls. In the case group, the methylation levels of H19 gene started to rise from 21 weeks of gestation, and that of PEG10 or IGF2 gene started to decline from 26 weeks of gestation. The methylation levels of IGF2 gene were significantly higher in the NTDs cases at 31 -36 weeks of gestation than those of the control counterparts （P 〈 0.05 ）. Conclusion ： The methylation of IGF2 gene may play a role in the development of NTDs.
出处
《中国计划生育学杂志》
2013年第2期88-93,共6页
Chinese Journal of Family Planning
基金
2011年出生缺陷与生殖健康重庆市市级重点实验室开放课题(No.1111)
