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目的建立一种对性连锁遗传病胎儿进行非侵入性产前诊断的快速、实用的方法。方法用套式聚合酶链反应（ＰＣＲ）技术对１８例孕周为１８～４０周，年龄为２２～３０岁的初产妇外周血男性单拷贝的ＤＹＳ１４基因进行特异性扩增。１８例孕妇的ＰＣＲ模板皆采用常规方法提取的母体外周血细胞ＤＮＡ，而其中有２例同时采用母体血浆直接作为模板进行ＰＣＲ。结果１８例中１２例妊娠男性胎儿妇女外周血ＤＹＳ１４基因检出率随着孕周的增长而增加，其中有１０例出现ＤＹＳ１４基因扩增带，检出率为８３３％（１０／１２），８例为２次ＰＣＲ扩增皆为阳性，２例为第二次扩增才出现阳性扩增带。利用套式ＰＣＲ使男性胎儿检出率从６６７％（８／１２）提高到８３３％（１０／１２），提高了１６６个百分点，使胎儿性别鉴定的总准确率达到８８８％（１６／１８），并且２例妊娠男胎的孕妇在提取细胞ＤＮＡ的同时利用母体血浆直接作为ＰＣＲ模板进行扩增，同样出现阳性扩增带。结论套式聚合酶链反应技术应用于产前胎儿性别鉴定，具有快速、简便、特异性强和实用性强等优点。
Objective To establish a rapid and practical method for noninvasive prenatal diagnosis of sexually linked fetuses with genetic disease. Methods 18 cases of maternal single copy of DYS14 gene in peripheral blood of 18 to 40 weeks old and 22 to 30 years of age were amplified by polymerase chain reaction (PCR). The PCR template of 18 pregnant women adopted the maternal peripheral blood DNA extracted by the routine method, and in 2 of them, the maternal plasma was directly used as the template for PCR. Results The detection rate of DYS14 gene in peripheral blood of 12 pregnant women fetuses increased with the growth of gestational age in 18 cases. Among them, 10 cases showed DYS14 gene amplification band with a detection rate of 833% (10/12) , 8 cases were positive for 2 PCR amplification, 2 cases for the second amplification appeared positive amplification band. The detection rate of male fetuses was increased from 66.7% (8/12) to 833% (10/12) by nested PCR, 16.6% higher, so that the total accuracy of fetus sex identification reached 88 8% (16/18), and two pregnant women with gestational maternal fetuses also used the maternal plasma to amplify DNA directly while extracting DNA. The same positive bands appeared. Conclusion Nested polymerase chain reaction (PCR) technique is applied to prenatal fetal sex identification. It has the advantages of fast, simple, specific and practical.