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目的建立一种非创伤性的取材和快速胎儿性别诊断方法，并应用于Ｘ连锁遗传病的产前诊断。方法采用聚合酶链反应（ＰＣＲ）技术，从３５例孕妇和４例有Ｄｕｃｈｅｎｎｅ肌营养不良（ＤＭＤ）男性生育史的孕妇外周血中扩增Ｙ染色体长臂上的ＤＹＺ—１基因。结果３５例孕妇经ＰＣＲ检测，１９例有一条４４６ｂｐＹ染色体特异荧光带，提示胎儿为男性；１６例无此荧光带，提示胎儿为女性。４例ＤＭＤ高危胎儿中，３例出现４４６ｂｐ荧光带，提示为男性；１例无此荧光带，提示为女性。检测结果与随访新生儿出生性别或引产后外生殖器检查结果完全一致。结论本方法快速、灵敏而准确，推广应用对Ｘ连锁遗传病的产前诊断具有重要意义。
OBJECTIVE: To establish a non-invasive method for rapid diagnosis of fetus and fetus sex, and apply it to the prenatal diagnosis of X-linked genetic diseases. Methods DYZ-1 gene was amplified from peripheral blood of 35 pregnant women and 4 pregnant women with Duchenne muscular dystrophy (DMD) by polymerase chain reaction (PCR). Results 35 cases of pregnant women detected by PCR, 19 cases had a 446bpY chromosome-specific fluorescent bands, suggesting that the fetus is male; 16 cases without this fluorescence band, suggesting that the fetus is female. In 4 DMD high-risk fetus, 446bp fluorescent bands appeared in 3 cases, suggesting that they were male; 1 case had no fluorescent band, suggesting that women were female. Test results and follow-up of newborns or genital sex after abortion genital examination results exactly the same. Conclusion The method is rapid, sensitive and accurate. The application of this method is of great importance for the prenatal diagnosis of X linked genetic diseases.