ERG甲基化位点检测技术在无创性产前诊断中的应用  

Detection of methylated ERG from maternal plasma for noninvasive prenatal testing

作　　者：陈熙 熊礼宽 曾婷 肖克林 黄艳萍 郭冀丹 麦光兴 郭辉[2] 任景慧[2] 

机构地区：[1]宝安区妇幼保健院中心实验室,广东深圳518133 [2]深圳市人民医院产前诊断中心,广东深圳518020

出　　处：《国际检验医学杂志》2013年第19期2502-2504,共3页International Journal of Laboratory Medicine

基　　金：广东省科技厅社会发展基金资助项目(2011B031800384);深圳市科技计划项目(201103047);宝安区科技计划资助项目(20110617)

摘　　要：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 the application of methylated ERG for noninvasive prenatal diagnosis,by detecting and analyzing ERG concentrations of cell-free fetal（cff）DNA in different gestation.Methods We randomly selected 90 healthy pregnant women,including 30cases at each trimester of pregnancy.Using HpaⅡ,MspⅠto digest cell-free maternal plasma DNA,we performed SYBR Green PCR to detect methylated sites of ERG sequences,and analyzed the concentrations of cff DNA in maternal plasma during different gestational trimesters.Results Cff DNA concentrations increased over gestational age.The median concentrations（LG copies/mL）in the three trimester groups were 5.38,6.10and 7.04separately（χ2=75.104,P＆lt;0.01）.Conclusion The study demonstrated the existence of methylated CCGG sites in ERG gene sequence of cff DNA.This fetal DNA biomarker may be useful for non-invasive prenatal testing.

关 键 词：游离胎儿DNA 产前诊断 聚合酶链反应 

分 类 号：R714.5[医药卫生—妇产科学]