摘要
目的探讨原因不明无精子症和少精子症患者与Y染色体精子发生相关基因的关系。方法对82例原因不明的无精子症和少精子症患者进行G带染色体核型分析,筛选核型正常无精子症和少精子症患者,采用多重PCR技术对Y染色体上AZF区15个序列标记位点进行检测。结果染色体核型异常16例,异常发生率为19.5%;66例核型正常无精子症和少精子症患者,有7例在Y染色体上出现不同位点基因片段微缺失,缺失率为10.6%。结论Y染色体上基因片段微缺失是造成无精子或少精子的重要原因之一,采用多重PCR技术对原因不明的无精子症和少精子症患者Y染色体精子发生相关基因进行检测分析是一种有效的好方法。
Objective ：To study the relationships between idiopathic oligospermia or azoospermia and spennatogenesis related genes in Y chromosome , Methods ：The chromoosome G - banding results were analyzed in 82 patients with idiopathic oligospermia or azoospermia, 15 Ylinked sequence- tagged sites in AZF region of patients with normal karyotype were screened by means of multiplex PCR. Results：There were 16 cases of abnormal karyotype with a incidence of 19.5 %. In the 66 patients with normal karyotype, 7 cases of microdeletions in different sites of Y chromosome were observed, the deletion rate was 10.6%. Conclusion ： Microdeletions of the Y chromosome is an improtant reason of oligospermia or azoospermia, multiplex PCR is a useful method for detection of spermatogenesis related genes in the Y chromosome of idiopathic oli- gospermia or azoospermia.
出处
《中国优生与遗传杂志》
2005年第8期22-23,10,共3页
Chinese Journal of Birth Health & Heredity
