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Non-invasive Prenatal Gene Diagnosis: Progress through Cell-free Fetal DNA and RNA in Maternal Plasma and Urine
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作者 GUO Xun-yang, GUO Yi-bin ( Department of Medical Genetics, Zhongshan School of Medicine, SUN Yat-Sen University, Guangzhou 510080, China ) 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2008年第S2期140-142,共3页
Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also ... Non-invasive prenatal gene diagnosis has been developed rapidly in the recent years, and numerous medical researchers are focusing on it. Such techniques could not only achieve prenatal diagnosis accurately, but also prevent tangential illness in fetuses and thus, reduce the incidence of diseases. Moreover, it is non-invasive prenatal gene diagnosis that prevents potential threaten and danger to both mothers and fetuses. Therefore, it is welcomed by clinical gynecologist and obstetrian, researchers of medical genetics, and especially, pregnancies. This review article touches briefly on the advanced development of using cell-free DNA, RNA in maternal plasma and urine for non-invasive prenatal gene diagnosis. 展开更多
关键词 NON-INVASIVE prenatal gene diagnosis cell-free fetal dna and RNA dna and RNA detection maternal URINE maternal plasma
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孕妇血浆中胎源性RASSF1A基因在无损性产前诊断中的应用研究 被引量:5
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作者 马玲 刘衍春 +3 位作者 郑凌 吴敏慧 刘毅 孙俊 《中国实验血液学杂志》 CAS CSCD 北大核心 2013年第5期1301-1304,共4页
本研究旨在探讨运用非性别依赖的甲基化表观遗传学标记RASSF1A基因作为孕妇血浆中循环游离胎儿DNA存在的通用性标志的可行性。采用2种方法提取孕妇血浆游离DNA,选用其中效果较好的用磁珠法提取20例标本的游离DNA;采用RT-PCR方法扩增SRY... 本研究旨在探讨运用非性别依赖的甲基化表观遗传学标记RASSF1A基因作为孕妇血浆中循环游离胎儿DNA存在的通用性标志的可行性。采用2种方法提取孕妇血浆游离DNA,选用其中效果较好的用磁珠法提取20例标本的游离DNA;采用RT-PCR方法扩增SRY基因以及甲基化酶处理后的RASSF1A基因,且对酶处理后RASSF1A基因的扩增体系进行条件优化。结果表明,在20例标本中11例检测有SRY基因,且与胎儿出生后性别相符;选用优化后的PCR体系扩增甲基化酶处理后的RASSF1A基因,在18例标本中检测有RASSF1A基因,在2例标本中未检测到此基因。结论:甲基化RASSF1A基因与SRY基因相比,不受胎儿性别限制,可作为广泛性胎儿特异性表观遗传学标记物,用于临床无损性产前诊断。 展开更多
关键词 孕妇血浆 循环游离胎儿dna RASSF1A基因
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