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目的 探讨精子发生障碍患者Y染色体AZF区微缺失情况及意义。 方法 选取 6个Y染色体特异性序列标签位点 (STS) ,用PCR技术检测 2 7例精子发生障碍患者AZF区微缺失情况。 结果 2 7例中AZF区微缺失 2例 ,表现为无精症。缺失均在AZFc区 ,1例为DAZ(sY2 5 4、sY2 5 5 )缺失 ,另 1例为DAZ加sY15 7缺失。 结论 与其他人种一样 ,Y染色体AZF区微缺失也可能是中国人精子发生障碍的原因之一 ,因而精子发生障碍患者在行辅助生育技术前进行AZF区微缺失的筛查是必要的。
Objective To investigate the microdeletions of Y chromosome AZF in patients with spermatogenic disorders and its significance. Methods Six Y chromosome specific sequence tagging sites (STS) were selected and the microdeletions of AZF in 27 cases with spermatogenic disorders were detected by PCR. Results 2 of 7 cases of AZF microdeletions in 2 cases, the performance of azoospermia. The deletion was in the AZFc region, one was deletion of DAZ (sY2 5 4, sY2 5 5) and the other was deletion of DAZ plus sY15 7. Conclusions As with other races, microdeletion of AZF in Y chromosome may also be one of the reasons for spermatogenesis in Chinese people. Therefore, it is necessary to screen microdeletions in AZF before spermatogenesis in assisted spermatogenesis.