从母血细胞和血浆提取胎儿DNA效率的比较研究

目的:通过比较全血和血浆中提取的胎儿DNA对诊断结果的影响,寻找最适的非创伤性产前诊断的方法。方法:取28例13-40孕周的孕妇外周血4 ml,等量分装于2个不同的采血管内,分别从两种不同的途径制备模板DNA,采用改良的聚合酶链反应(PCR)技术,对胎儿DYZ-1基因进行产前检测。以出生后直接观察结果作为对照。结果:23例孕育男性胎儿孕妇,从全血和孕妇血浆中提取DNA的DYZ-1基因检出率分别为65%和96%,5例孕育女性胎儿孕妇,没有1例出现假阳性结果。结论:血浆游离DNA直接分析法的检出率相对高于外周血细胞DNA模板制备法,血浆中游离DNA是极为适合的材料来源。

Study of Comparing Efficiency of Fetal DNA Extracting from Maternal Cells and Plasma

Objective: To search for a new method of non-invasive prenatal gene diagnosis.Methods: Blood samples from twenty-eight pregnant women,4 ml on average,were separated into two tubes.DNA from venous blood cells and plasma were extracted.The human DYZ-1 gene was amplified by the improved nest-polymerase chain reaction(PCR).The fetal sex results were compared with fetal gender.Results: The detectable rate of the DYZ-1 gene in maternal plasma DNA and blood cells from 23 women carrying male fetuses was 96% and 65% respectively(P<0.05).None of the other five female-bearing pregnant women had positive result.Conclusion: The high sensitivity and specificity of the plasma polymerase chain reaction-based method makes it an promising method for non-invasive prenatal gene diagnosis.