孕妇外周血中无细胞胎儿DNA的研究进展及应用  

Progress for cell free fetal DNA from maternal peripheral blood and its applications

作　　者：杨维婵[1] 傅晓冬[2] 傅俊江[1] 

机构地区：[1]泸州医学院医学基础研究中心表观遗传与肿瘤四川省高校重点实验室,646000 [2]泸州医学院附属医院妇产科,646000

出　　处：《国际遗传学杂志》2015年第2期102-107,共6页International Journal of Genetics

基　　金：国家自然科学基金（30371493）;四川省高校科技创新团队（13TD0032）

摘　　要：孕妇外周血中无细胞胎儿DNA（cffDNA）是无创性产前诊断中重要的胎儿物质的检测来源.由于孕妇血中大部分是母体DNA,而游离胎儿DNA的量非常少,仅占3％～6％.因此从孕妇血中成功分离cffDNA,对后续的无创性产前诊断有着十分重要的意义.本文分别从孕妇外周血中cffDNA的发现来源,cffDNA的结构与稳定性,分离孕妇外周血中的cffDNA的实验方法,及在无创性产前诊断中的应用等方面进行介绍,并着重对该技术近年来的研究进展作一综述.旨在探寻较高效率分离孕妇外周血中cffDNA的实验方法,为无创性产前诊断提供较高浓度的检测物质,提高其准确率及成功率.Cell free fetal DNA （cffDNA） in maternal peripheral blood is an important material of fetus for detection in non-invasive prenatal diagnosis （NIPD）.Most DNAs in maternal blood is maternal origin,the proportion of cffDNA is just 3 % ～ 6 %.Therefore,successful isolation of cffDNA from maternal peripheral blood plays an important role in the subsequent NIPT.In this paper we will review the discovery,origin,structure and stability of cffDNA laboratory method of isolation from maternal blood,and the its application in NIPT,and emphasize on the recently research progress of technology systematically.The purpose is to explore the laboratory method for cffDNA isolation with high efficiency,to provide a high concentration of cffDNA for NIPT and increase the accuracy rate and success rate in NIPD.

关 键 词：无细胞胎儿DNA 孕妇外周血 无创性产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]