孕妇血清中DAZ基因含量在21三体产前筛查中的应用
Exploratory development for DAZ gene content in pregnancy serum as a new prenatal screening indicator of Down's syndrome
方草 1陈必良 1张建芳 1赵海波 1王红英 1辛晓燕 1王德堂1
作者信息
- 1. 第四军医大学西京医院妇产科,陕西,西安,710033
- 折叠
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(8～12 wk)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2l三体的重要指标.
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 fetalDNA 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.
关键词
胎儿游离DNA/21三体/实时定量聚合酶链反应Key words
cell-free fetal DNA/trisomy 21/real-time quantitative polymerase chain reaction引用本文复制引用
出版年
2009
NETL
NSTL
维普
万方数据