母体循环中胎儿遗传信息靶标的检测及应用  

Detection of circulating fetal DNA in maternal plasma for non-invasive prenatal diagnosis

作　　者：汤冬玲[1] 李艳[1] 

机构地区：[1]武汉大学人民医院检验科,湖北武汉430060

出　　处：《中国妇幼保健》2009年第20期2854-2856,共3页Maternal and Child Health Care of China

摘　　要：目的:依据孕妇血浆中存在游离胎儿DNA的理论,评价从母血浆中分离游离胎儿DNA的可行性及其在临床的应用价值。方法:提取47例健康孕妇血浆标本中游离胎儿DNA,经巢式PCR扩增其性别决定基因(Sex-detennining regionY,SRY),并引入X染色体上特异的内参照基因序列ATL1,同时以其丈夫及未孕女性的外周血作对照分析。结果:27例妊娠男胎女性血浆中均出现基因扩增带,其余20例妊娠女性有2例出现假阳性,性别总符合率为95.74%(45/47)。结论:应用孕妇血浆中胎儿DNA作产前诊断敏感性和特异性较高,具有广泛的临床应用前景。Objective： To explore the application value of fetal DNA in maternal plasma for non - invasive prenatal diagnosis. Methods： The DNA template was extracted by QIAamp Blood DNA midi kit from 47 maternal （ 12 - 37 weeks） plasma. Using the nested polymerase chain reaction （PCR） , the 130 bp SRY gene - specific sequence and the 261 bp ATL1 gene - specific sequence were amplified simultaneously. The results were confirmed by examination of newborns after delivery. Results： The concordance rate between real fetal sex and sex determined by amplification of the SRY gene was 95.74% （45/47） . Conclusion ： Circulating fetal DNA analysis can be used as a possible alternative tool in routine laboratory prenatal diagnosis in the near future.

关 键 词：产前诊断 胎儿DNA 巢式PCR 

分 类 号：R714.5[医药卫生—妇产科学]