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孕妇血浆中胎儿DNA在产前诊断中的应用 被引量:5

Evaluation of fetal DNA in maternal plasma for prenatal diagnosis
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摘要 目的 探讨孕妇血浆中胎儿 DNA在无创性产前诊断中的应用。方法 应用酚 -氯仿法抽提4 4名孕 7~ 4 1周妇女血浆中胎儿 DNA,通过 PCR扩增胎儿 Y染色体上 DYZ1位点 ,长度为 14 9bp。结果2 2名妊娠男性胎儿孕妇中全部出现 DYZ1基因扩增条带 ,检出率为 10 0 .0 0 %。 2 2名妊娠女性胎儿孕妇中2 0例为阴性结果 ,两例假阳性结果。早、中、晚孕期性别符合率分别为 88.89%、10 0 .0 0 %、96 .5 5 % ,总符合率为 95 .4 5 %。结论 使用酚 -氯仿法抽提血浆中的 DNA,提高模版的浓度和纯度进行 PCR,增加了结果的准确性。提示母体血浆中游离的胎儿 DNA可以作为无创性产前诊断的标本来源。 Objective: To explore the application of fetal DNA in maternal plasma for uninvasive prenatal diagnosis. Methods: The DNA template was extracted by hydroxybenzene-chloroform from 44 maternal (7-41 weeks) plasma. A Y-chromosome-specific repeat sequence DYZ1 gene (149 bp) was chosen to be amplified by PCR. Results: The fragment was identified in all the plasma of male bearing pregnant women. The diagnostic accordance rate was 100.00%; two of the 22 female bearing pregnant women had false positive results. Among the 44 pregnant women, the diagnostic accordance rate was 88.89% at early pregnant stage, 100.00% at medium pregnant stage, and 96.55% at late stage respectively. The final accuracy of 95.45% was obtained in all cases. Conclusion: By means of hydroxybenzene-chloroform extraction the authors of this article promoted the concentration and purity of the DNA template, and diagnosed more accurately. The results showed that free fetal DNA in the maternal plasma could be regarded as the gene resource for uninvasive prenatal diagnosis.
作者 赵茵 邹丽
出处 《中华医学遗传学杂志》 EI CAS CSCD 2003年第4期360-362,共3页 Chinese Journal of Medical Genetics
基金 国家教委留学回国人员启动基金 (1 996644) 卫生部回国人员课题基金 (1 9960 2 4 )~~
关键词 孕妇 血浆 DNA 胎儿 产前诊断 临床应用 酚-氯仿法 DNA Extraction Genes
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参考文献8

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同被引文献84

  • 1刘福民 ,冯霞 ,王秀英 ,王文 ,叶月仙 ,陈红 .荧光定量PCR检测孕妇血浆中胎儿DNA的研究[J].中华围产医学杂志,2005,8(6):380-383. 被引量:5
  • 2邓志辉,李茜,李大成,王大明,高素青,吴国光.中国南方汉族群体九个短片段长度Y-STR基因座的遗传多态性及其法医学应用[J].中华医学遗传学杂志,2006,23(4):470-474. 被引量:13
  • 3邓志辉,李大成.孕妇血浆中胎儿游离DNA的生化特征及其应用研究新进展[J].中华医学遗传学杂志,2007,24(3):314-318. 被引量:5
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  • 7Lo YM,Tein MS,Lau TK,et al.Quantitative analysis of fetal DNA in maternal plasma and serum:Implication for noninvasive prenatal diagnosis[J].Am J Hum Genet,1998,62(4):768-775.
  • 8Honda H,Miharu N,Ohashi Y,et al.Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum[J].Clin Chem,2001,47(1):41-46.
  • 9Deng ZH,Wu GG,Li Q,et al.Noninvasive genotyping of9Y-chromosome specific STR loci using circulatory fetal DNA in ma-ternal plasma by multiplex PCR[J].Prenat Diagn,2006,26(4):362-368.
  • 10Lo YM.Fetal DNA in maternal plasma:biology and diagnostic ap-plications[J].Clin Chem,2000,46(12):1903-1906.

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