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早孕妇女血浆中胎儿游离DNA的检测 被引量:4

Study of fetal cell-free DNA in maternal plasma at early pregnant stage
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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.
出处 《临床医药实践》 2006年第3期175-177,共3页 Proceeding of Clinical Medicine
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 real-time fluorescence quantitative polymerase chain reaction fetal cell free DNA,maternal plasma sex-determining region Y gene
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参考文献3

  • 1LO Y M D,CORBETTA N,CHAMBERLAIN P F,et al.Presence of fetal DNA in maternal plasma and serum[J].Lancet,1997,350:485-487.
  • 2LO Y,ZHANG J,LEUNG T N,et al.Rapid clearance of fetal DNA from maternal plasma[J].Am J Hum Genet,1999,64:218-224.
  • 3HONDA H,MIHARU N,OHASHI Y,et al.Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum[J].Hum Genet,2002,110 (1):15-19.

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