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目的探索母胎差异甲基化位点RASSF1A在孕妇血浆胎儿DNA检测中的价值。方法收集126例孕妇血浆,同时收集外周血细胞及胎盘(或绒毛)组织,利用甲基化特异性PCR(MSP)分析母胎间RASSF1A基因甲基化状态的差异,并评估孕妇血浆中高甲基化RASSF1A片段的检出率。结果证实RASSF1A基因在母体外周血细胞呈现低甲基化状态,而在胎盘或绒毛组织中呈高甲基化状态,且这种甲基化差异在不同孕期均稳定存在。采用MSP技术对孕妇血浆胎源性RASSF1A基因的的检出率为86.5%。结论高甲基化RASSF1A基因可作为孕妇血浆中胎源DNA的标志物,有望为利用孕妇血浆胎儿DNA进行无创性产前诊断开辟新的方向。
Objective To explore the value of RASSF1A, a differential methylation site in maternal fetal DNA in the detection of fetal maternal fetal DNA. Methods Totally 126 pregnant pregnant women were collected to collect peripheral blood cells and placenta (or villi) tissues. Methylation-specific PCR (MSP) was used to analyze the methylation status of RASSF1A gene in maternal fetus and to evaluate the relationship between methylated RASSF1A Segment detection rate. The results confirmed RASSF1A gene in the mother’s peripheral blood cells showed hypomethylation status, and in the placenta or chorionic tissue hypermethylation status, and this methylation difference in different pregnancy are stable. The detection rate of maternal fetal gene RASSF1A using MSP was 86.5%. Conclusion The hypermethylated RASSF1A gene can be used as a marker of fetal DNA in pregnant women, which is expected to open a new direction for noninvasive prenatal diagnosis of fetal DNA in pregnant women.