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探讨对Ｘ连锁隐性伴性遗传者进行无创伤产前性别基因诊断的可行性，应用密度梯度离心技术对４１例不同孕周的孕妇外周血中胎儿细胞进行富集纯化，并采用高度敏感和特异的巢式ＰＣＲ技术扩增人类Ｙ染色体锌指结构基因（Ｚｉｎｃ－ｆｉｎｇｅｒ－Ｙｇｅｎｅ，ＺＦＹ），同时以正常男性和女性各２０名为阳性、阴性对照，并对扩增产物进行核酸序列分析鉴定。结果表明：４０例胎儿性别诊断准确，且孕妇早期外周血中即有胚胎细胞产生，提示该技术可作为无创伤性产前诊断新技术用于Ｘ连锁隐性遗传的诊断。
To investigate the feasibility of noninvasive prenatal genetic genetic diagnosis of X-linked recessive hereditary subjects, enrichment and purification of fetal cells in peripheral blood of 41 pregnant women with different gestational weeks using density gradient centrifugation, (Zinc-finger-Ygene, ZFY) was amplified by specific nested-PCR technique. At the same time, 20 normal and negative males and 20 females were positive and negative controls, and the amplified products were identified by nucleic acid sequence analysis . The results showed that: 40 cases of fetus sex accurate diagnosis, and early pregnant women that have embryonic cells in the peripheral blood, suggesting that the technology can be used as a new noninvasive prenatal diagnosis of X-linked recessive genetic diagnosis.