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中华妇幼临床医学杂志(电子版) ›› 2012, Vol. 08 ›› Issue (05) : 650 -653. doi: 10.3877/cma.j.issn.1673-5250.2012.05.033

所属专题: 文献

综述

表观遗传学在无创性产前诊断中的应用进展
周浩1, 易萍1,*,*(), 李力1   
  1. 1. 400042 重庆,第三军医大学大坪医院野战外科研究所妇产科
  • 收稿日期:2012-06-10 修回日期:2012-09-01 出版日期:2012-10-01
  • 通信作者: 易萍

Application Progress of Epigenetic in Noninvasive Prenatal Diagnosis

Hao ZHOU1, Ping YI1(), Li LI1   

  1. 1. Department of Gynecology and Obstetrics, Third Military Medical University Daping Hospital, Research Institute of Field Surgery, Chongqing 400042, China
  • Received:2012-06-10 Revised:2012-09-01 Published:2012-10-01
  • Corresponding author: Ping YI
  • About author:
    (Corresponding author: YI Ping, Email: )
引用本文:

周浩, 易萍, 李力. 表观遗传学在无创性产前诊断中的应用进展[J]. 中华妇幼临床医学杂志(电子版), 2012, 08(05): 650-653.

Hao ZHOU, Ping YI, Li LI. Application Progress of Epigenetic in Noninvasive Prenatal Diagnosis[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2012, 08(05): 650-653.

孕妇血浆中胎儿表观遗传学标志物可作为一个定性标志物用于检查实验结果是否存在假阴性的指标,也可作为一个定量标志,用于筛查妊娠相关性疾病;其中的染色体特异性标记物,可用于胎儿三倍体的检测。目前已有较多胎儿表观遗传学标志被发现,部分已用于临床相关疾病的筛查。但孕妇血浆中胎儿表观遗传学标志物的广泛应用,仍需要大量的临床试验来验证。作者拟就表观遗传学在无创性产前诊断中的应用进展,综述如下。

Fetal epigenetic markers can be used as qualitative markers to indicate the presence of fetal DNA or as quantitative markers to quantify the amount of fetal DNA. It also can be used for the prenatal detection of fetal trisomy. Many fetal epigenetic markers have been discovered, and some of them have been applied in the clinical setting. However, large numbers of noninvasive prenatal diagnostic tests must be done in the future.

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