孕妇血浆中胎儿游离mRNA检测在唐氏综合征产前诊断中的应用  

Detection of cell-free fetal mRNA in maternal plasma for a new prenatal screening marker of Down's syndrome

作　　者：程蔚蔚[1] 赵欣荣[1] 张华[2] 陈焱[1] 王彦林[1] 

机构地区：[1]上海交通大学医学院附属国际和平妇幼保健院,上海200030 [2]中国科学院上海微系统与信息技术研究所,上海200050

出　　处：《中国实用妇科与产科杂志》2010年第1期53-55,共3页Chinese Journal of Practical Gynecology and Obstetrics

基　　金：国家十一五科技攻关项目(2006BAI05A05);上海市卫生局课题(20060601);上海市教育委员会科研创新项目(06132056);上海市常见出生缺陷的综合防治研究(2008ZD001)

摘　　要：目的探讨孕妇血浆中胎儿游离mRNA含量变化作为唐氏综合征产前筛查指标的可行性。方法选择2007年5月至2008年8月在上海交通大学医学院附属国际和平妇幼保健院就诊的26例孕中期(15～26周)妇女作为研究对象,其中13例为单胎行常规产科检查的孕妇(A组),9例为21-三体综合征胎儿的孕妇(B组),4例为其他染色体异常胎儿的孕妇(C组),提取其外周血血浆中游离mRNA,应用QF-PCR技术检测胎盘来源的HPL,β-HCG,TFPI2,DSCR4,LOC90625基因,以此确定母体血浆中的胎儿游离mRNA含量,并同时检测代表母体与胎儿总游离mRNA的18sRNA基因作为内参照。结果除TFPI2基因外,其他4种基因,在21-三体综合征胎儿孕妇组和其他染色体异常胎儿孕妇组血浆中胎儿游离mRNA含量明显高于正常胎儿孕妇组(P<0.01)。结论胎儿游离mRNA可能成为产前筛查唐氏综合征的有效指标。Objective Detection of cell-free fetal mRNA in maternal plasma by real-time quantitative flouorescence polymerase chain reaction（QF-PCR） and on the basis of it＇s amount to discuss the feasibility as a new prenatal screening indicator of Down＇S syndrome. Methods Peripheral blood samples （n=26） were collected from pregnant women attending the International Peace Maternity and Child Health Hospital,School of Medicine,Shanghai Jiaotong University from May 2007 to August 2008.Cel1-free fetal mRNA in maternal plasma was isolated from 26 samples in the midtrimester（15~26W）pregnancy.Samples consisted of 9 women carrying trisomy 21 fetuses（group B）,4 carrying aneuploid fetuses（group C）,and 13 carrying normal fetuses（group A）.QF-PCR was used to detect HPL,β-HCG,TFPI2,DSCR4,LOC90625 gene markers of the placental origin and 18sRNA gene of the mothers and the fetuses. Results All abnormal high concentrations of cell-free fetal mRNA but TFPI2 were found in a proportion of women carrying trisomy 21 fetuses and aneuploid fetuses（P0.01）.Conclusion Cell-free fetal mRNA in maternal plasma is a potential prenatal screening maker for trisomy 21.

关 键 词：胎儿游离mRNA 唐氏综合征 实时荧光定量PCR技术 

分 类 号：R71[医药卫生—妇产科学]