【摘要】 目的 :从孕妇血浆中提取胎儿DNA ,寻找一种非创伤性产前诊断的新方法。方法 :采用煮沸法从血浆中提取DNA ,结合巢式聚合酶链反应技术对 4 0例 10～ 4 0孕周的孕妇血浆中的胎儿DNA进行特异性扩增 ,扩增的基因为Y染色体的重复序列 (DYZ1)基因 ,扩增片段大小为 10 2bp。结果 :30例孕育男性胎儿孕妇中有 2 6例血浆中出现DYZ1基因扩增带。 10例孕育女性胎儿孕妇血浆中 ,仅 1例出现假阳性结果。结论 :采用巢式聚合酶链技术在不同的孕期检测母体血浆中的胎儿DNA均有较高的灵敏度和特异性 ,作为一种非创伤性产前诊断的方法应用于临床具有可行性。更多还原

【Abstract】 Objective: To search for a new method of non invasive prenatal gene diagnosis. Methods: The DNA was extracted from maternal plasma using a rapid boiling method. A human DYZ1 gene of Y chromosome of fetal DNA sequence was amplified by nested polymerase chain reaction(PCR) from forty pregnant maternal plasma(10～40 weeks).The 102 bp specific fragment was obtained. Results: The fragment was identified in 26 of 30 male bearing pregnant women plasma. The diagnostic accordance rate was 87%(26/30). Only one of the other 10 female bearing pregnant women had positive result. Conclusion: The high sensitivity and specificity with which the plasma polymerase chain reaction based method can be performed makes it an apromising method for non invasive prenatal gene diagnosis.更多还原