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.
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 )~~