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目的研究无精子症和少精子症患者与Y染色体位点缺失的相关性,建立Y染色体微缺失的分子诊断方法。方法采用多重PCR技术对53例染色体核型正常的无精子症和少精子症患者以及5例正常男性的无精子因子(azoosperm iafactor,AZF)区域的6个STS位点进行检测。结果5例精液正常男性未检出Y染色体微缺失;53例患者中6例有AZF区域的微缺失,总缺失率为11.3%。结论Y染色体微缺失是严重生精障碍的重要原因之一,无精子因子(AZF)候选基因在精子发生过程中可能起重要作用。
Objective To study the relationship between azoospermia and oligospermia in patients with Y chromosome loci deletion and to establish a molecular diagnostic method for Y chromosome microdeletions. Methods Six STS loci in 53 cases of azoosperm iafactor (AZF) from patients with normal karyotype of azoospermia and oligospermia and 5 normal males were detected by multiplex PCR. Results Five patients with normal semen did not detect Y chromosome microdeletions. Six of the 53 patients had microdeletions in the AZF region, with a total loss rate of 11.3%. Conclusion Y chromosome microdeletion is one of the most important causes of severe spermatogenic disorders. The candidate gene of non-sperm factor (AZF) may play an important role in spermatogenesis.