Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma

YI Ping; LI Li; XIA Ji; YU Li-li; CHEN Wei; CHEN Zhu-qin

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Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma

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- Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma
- Journal of Army Medical University Vol. 29, Issue 6, Pages: 538-540(2007)
- 作者机构：
  
  第三军医大学大坪医院野战外科研究所：妇产科，检验科
- 作者简介：
- 基金信息：
- DOI：
  CLC： R714.52;R446.11
- Published：2007，
  
  Published Online：30 March 2007，
- 稿件说明：
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YI PING, LI LI, XIA JI, et al. Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma. [J]. Journal of army medical university, 2007, 29(6): 538-540.
DOI：

YI PING, LI LI, XIA JI, et al. Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma. [J]. Journal of army medical university, 2007, 29(6): 538-540. DOI：

摘要

目的建立一种准确、快速、简便的无创性胎儿性别鉴定技术。方法应用实时定量PCR技术(Taqman探针法)检测35例孕妇血浆中胎儿DNA的Y染色体特异序列SRY基因，每例血浆样本DNA均用3个PCR管同时进行检测。结果利用母体血浆中SRY基因定量PCR分析的灵敏度为94.7%，特异性为100%。结论母亲血浆DNA中SRY基因定量检测是一种高度敏感性和比较可靠的胎儿性别鉴定技术，为性连锁遗传病提供一种无创性产前诊断方法。

Abstract

Objective To develop an accurate

rapid and simple method to determine fetal sex by analyzing DNA from maternal plasma. Methods Real-time PCR assay was used to detect Y chromosome specific sequences (SRY) in plasma DNA of 35 pregnant women admitted to our hospital from Nov 2004 to Mar 2005. Real-time PCR was performed in triplicate. Results Sensitivity of SRY by real-time PCR was 94.7%

and specificity was 100%. Conclusion Detection of fetal DNA from maternal plasma is a sensitive and reliable technique in non-invasive prenatal diagnosis of sex-linked inherited diseases.

关键词

血浆DNA产前诊断实时定量PCR

Keywords

plasma DNAprenatal diagnosisReal-time PCR

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