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目的通过检测和分析游离胎儿DNA的ERG基因在不同孕期中浓度的变化,探讨利用ERG甲基化位点检测技术应用于无创性产前诊断的可行性。方法随机选取健康妊娠妇女早孕组、中孕组、晚孕组各30例。采用HpaⅡ、MspⅠ分别对血浆中提取的游离DNA酶切后进行SYBR PCR反应,通过检测ERG基因甲基化位点,定量分析不同孕期的孕妇血浆中游离胎儿DNA浓度。结果游离胎儿DNA的ERG基因在孕妇血浆中的浓度随着孕周的增长而升高。各孕周组的母血浆中ERG基因浓度(LG copies/mL)中位数分别为5.38,6.10和7.04(χ2=75.104,P<0.01)。结论本研究证实了游离胎儿DNA的ERG基因序列上CCGG位点存在甲基化的特性。进一步确定了ERG基因作为胎儿DNA的标记物应用于无创性产前诊断的可行性。
Objective To explore the feasibility of using ERG methylation locus detection in non-invasive prenatal diagnosis by detecting and analyzing the change of ERG gene concentration in different fetuses during free pregnancy. Methods 30 healthy pregnant women were selected randomly from the early pregnancy group, the middle pregnancy group and the late pregnancy group. HpaⅡ and MspⅠ were respectively used for digestion of free DNA extracted from plasma and then subjected to SYBR PCR. The methylation of ERG gene was detected by enzyme-linked immunosorbent assay (ELISA) to quantify free fetal DNA concentration in different pregnant women. Results The concentration of free fetal DNA ERG gene in pregnant women plasma increased with gestational age. The median ERG gene concentration (LG copies / mL) in the maternal plasma of each gestational week group was 5.38, 6.10 and 7.04, respectively (χ2 = 75.104, P <0.01). Conclusion This study confirms the presence of methylation at the CCGG site in the ERG gene of free fetal DNA. Further confirmed the feasibility of using ERG gene as a marker of fetal DNA in noninvasive prenatal diagnosis.