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孕妇血清中DAZ基因含量在21三体产前筛查中的应用
引用本文:方草,陈必良,张建芳,赵海波,王红英,辛晓燕,王德堂.孕妇血清中DAZ基因含量在21三体产前筛查中的应用[J].第四军医大学学报,2009(19):2033-2035.
作者姓名:方草  陈必良  张建芳  赵海波  王红英  辛晓燕  王德堂
作者单位:第四军医大学西京医院妇产科;
摘    要:目的:探讨检测孕妇血清中胎儿DNA含量在临床产前诊断21三体综合征的可行性.方法:采用70例孕早期(8~12wk)的妇女作为研究对象,其中10例为孕21三体男胎的妇女,30例为孕正常男胎的妇女,30例为孕正常女胎的妇女,提取其外周血血清中游离DNA,应用TaqMAN探针实时定量PCR技术检测Y染色体上无精症基因DAZ和代表母体及胎儿总游离DNA的β-actin基因的含量.结果:定量PCR检出孕21三体组血清中的胎儿游离DNA含量是正常男胎组的2.2倍.孕正常女胎组血清中未检测到DAZ基因.结论:定量PCR技术检测胎儿游离DNA可以作为产前筛查男胎21三体的重要指标.

关 键 词:胎儿游离DNA  21三体  实时定量聚合酶链反应

Exploratory development for DAZ gene content in pregnancy serum as a new prenatal screening indicator of Down'S syndrome
FANG Cao,CHEN Bi-Liang,ZHANG Jian-Fang,ZHAO Hai-Bo,WANG Hong-Ying,XIN Xiao-Yan,WANG De-Tang.Exploratory development for DAZ gene content in pregnancy serum as a new prenatal screening indicator of Down'S syndrome[J].Journal of the Fourth Military Medical University,2009(19):2033-2035.
Authors:FANG Cao  CHEN Bi-Liang  ZHANG Jian-Fang  ZHAO Hai-Bo  WANG Hong-Ying  XIN Xiao-Yan  WANG De-Tang
Institution:FANG Cao,CHEN Bi-Liang,ZHANG Jian-Fang,ZHAO Hai-Bo,WANG Hong-Ying,XIN Xiao-Yan,WANG De-TangDepartment of Gynecology and Obstetrics,Xijing Hospital,Fourth Military Medical University,Xi'an 710033,China
Abstract:AIM:To discuss the feasibility of DAZ gene content in pregnancy serum as a new prenatal screening indicator of Down's syndrome.METHODS:Cell-free fetal DNA in maternal serum was isolated from 70 samples in early pregnancy(7-12 wk).Samples consisted of 10 women carrying male trisomy 21 fetuses,30 carrying euploid male fetuses,and 30 carrying female fetuses.TaqMan probe real-time quantitative PCR was used to detect both DAZ gene on Y chromosome and β-actin gene of the mothers and the fetuses.RESULTS:Down's syndrome pregnancies exhibit 2.2-hold higher levels of maternal serum cell-free fetal DNA compared with matched controls.None of the samples from women carrying female fetuses had detectable Y-chromosomal signals.CONCLUSION:Detection of cell-free fetal DNA in maternal serum by TaqMAN probe real-time quantitative polymerase chain reaction(real-time quantitative PCR)and on the basis of its amount is a potential prenatal screening marker for trisomy 21.
Keywords:cell-free fetal DNA  trisomy 21  real-time quantitative polymerase chain reaction  
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