Chi H, Kang Z, Hu G
Second Affiliated Hospital, Harbin Medical University, Harbin 150086.
Zhonghua Fu Chan Ke Za Zhi. 1999 Jan;34(1):27-9.
To search for a new method of non-invasive prenatal gene diagnosis.
A single-copy human DYS14 gene of Y-chromosome of fetal DNA sequence was amplified by nested polymerase chain reaction (PCR) from twelve pregnant maternal plasma (12-40 weeks). A 239 bp and 198 bp specific fragment were obtained. The maternal plasma samples of twelve pregnant women were used directly for nested PCR. RESULTS The fragment was identified in 8 of 10 male-bearing pregnant women plasma. The diagnostic accordance rate was 80% (8/10), 6 to 8 women gave positive signals in two consecutive amplifications, 2 of 8 women gave positive signals in the second amplification. The rate of positive was increased greatly by nested PCR (from 60% to 80%). None of the other 2 female-bearing pregnant women had positive results. The final accuracy of 83.3% (10/12) was attained in all cases.
The finding of circulating fetal DNA in maternal plasma may have new implications for non-invasive prenatal gene diagnosis, and the nested PCR possesses the advantages of sensitivity and specificity which improves the clinical application.
寻找一种新的无创产前基因诊断方法。
采用巢式聚合酶链反应（PCR）从12例孕周为12 - 40周的孕妇血浆中扩增胎儿DNA序列的Y染色体单拷贝人类DYS14基因，获得了239 bp和198 bp的特异性片段。12例孕妇的血浆样本直接用于巢式PCR。结果：在10例怀有男性胎儿的孕妇血浆中，8例检测到该片段，诊断符合率为80%（8/10），6至8例孕妇在连续两次扩增中出现阳性信号，8例中的2例在第二次扩增中出现阳性信号。巢式PCR使阳性率大幅提高（从60%提高到80%）。另外2例怀有女性胎儿的孕妇均未出现阳性结果。所有病例最终准确率达到83.3%（10/12）。
孕妇血浆中循环胎儿DNA的发现可能为无创产前基因诊断带来新的启示，巢式PCR具有敏感性和特异性的优势，提高了临床应用价值。
