早孕妇女血浆中胎儿游离DNA的检测  

Study of fetal cell-free DNA in maternal plasma at early pregnant stage

作　　者：琚竹梅[1] 郑梅玲[2] 

机构地区：[1]山西省妇幼保健院,山西太原030013 [2]山西医科大学第一医院,山西太原030001

出　　处：《临床医药实践》2006年第3期175-177,共3页Proceeding of Clinical Medicine

摘　　要：目的:建立一种检测早孕妇女血浆中胎儿游离DNA的新方法。方法:从50例妊娠7、8、9周的孕妇外周血血浆中提取胎儿游离DNA,用实时荧光定量聚合酶链反应(FQ-PCR)技术检测其中的Y性别决定区(SRY)基因。结果:38例早孕孕男胎妇女中32例血浆中出现SRY基因,灵敏度84.21%;12例早孕孕女胎的妇女血浆中均未出现SRY基因,特异度100%。结论:用实时荧光定量PCR技术可用来检测早孕妇女血浆中的胎儿游离DNA,这对无创性早期产前基因诊断方法的建立具有重大意义。Objective：To establish the new technology for detection of fetal cell-free DNA in maternal plasma at early pregnant stage. Methods：Fetal cell free DNA in maternal plasma was islated from 50 samples （range, 7-9weeks）. Fetal DNA in maternal plasma was measured using real-time fluorescence quantitative polymcrase chain rcaction（FQ-PCR）for the SRY gene on the Y chromosome. Results ：Thirty-eight women at early pregnant stage （range ,7-9 weeks） carried male fetuses. Thirty two samples of them were positive ,the sensitivity of the system reaches 84.21%. The results of FQ-PCR were negative in the 12 women who carried female fetuses. The specificity of the systemreaches 100%. Conclusion：Fetal cell-free DNA in maternal plasma at early pregnant stage was measured using realtime fluorescence quantitative polymerase chain reaction（FQ-PCR）. It can be very valuable for early non-invasive prenatal diagnosis of inherited disorders.

关 键 词：实时荧光定量聚合酶链反应 胎儿游离DNA 母体血浆 Y性别决定区基因 

分 类 号：R714.5[医药卫生—妇产科学]