基因芯片检测孕妇外周血浆DNA的研究
首发时间:2008-01-24
摘要:随着孕妇外周血液中胎儿核酸的发现和研究的深入,DNA甲基化作为一种潜在的通用检测标志物越来越受到研究者们的重视。我们对66例妊娠妇女的外周血浆DNA和13例对照样品DNA进行了甲基化检测分析,通过利用甲基化特异的寡核苷酸微阵列对APC基因启动区的甲基化状态的分析检测发现:在孕妇的外周血浆中特别是在孕晚期妇女的样品中APC基因启动区存在着明显的甲基化,而在对照样品中没有明显甲基化现象发生;在APC基因启动区的不同甲基化位点上,其甲基化程度没有明显差异。甲基化特异的PCR分析获得了类似的结论。该实验表明,DNA甲基化现象可以用无创性产前诊断的研究;甲基化的APC基因可以作为一种潜在的通用标志物应用于无创性产前诊断。
关键词: 产前诊断 APC 血浆DNA 甲基化特异的寡核苷酸芯片
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Detect methylation of maternal plasma DNA with microarray
Abstract:Methylation as a potential marker for the research of prenatal diagnosis was more and more concerned by geneticist and clinical researcher. Plasma sample from 66 pregnant women and 13 non-pregnancy control were analyzed in our study. APC promoter methylation status was assayed by using methylation-specific oligonucleotide microarray. MSP was carried out for comparison. In addition, fetal DNA level in maternal plasma was measured by real time quantitative PCR. Extensive APC promoter methylation was observed in plasma of pregnant women; no significant difference was obtained between different CpG sites. The results also showed that the methylation level of APC promoter was correlated with the fetal DNA concentration in maternal plasma. DNA methylation could be used in non-invasive prenatal diagnosis; the methylation status of APC promoter might be developed to a potential universal marker for fetal DNA detection in maternal plasma
Keywords: Methylation specific oligonucleotide array, Plasma DNA, APC, Prenatal diagnosis
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