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用ＰＣＲ方法检测了核型正常（４６，ＸＹ）的９５例无精子症患者和３５例严重少精子症患者基因组ＤＮＡ中的ＤＹＳ１，发现４例无精子症患者有ＤＹＳ１的丢失，严重少精子患者中发现３例有ＤＹＳ１的丢失。结果表明：应用ＰＣＲ法检测ＤＹＳ１基因片段是切实可行的，对无精子症和严重少精子症患者的病因诊断具有一定的应用价值。
The genomic DNA of 95 cases of azoospermia patients and 35 cases of severe oligospermia patients with normal karyotype (46, XY) were detected by PCR. DYS1 was found in 4 cases of azoospermia patients. In severe oligospermia patients In 3 cases there was a loss of DYS1. The results showed that it is feasible to detect the DYS1 gene fragment by PCR, and it is of value in the diagnosis of azoospermia and severe oligospermia.