【摘要】 目的从遗传学角度分析男性生精障碍的病因,为临床提供治疗和遗传咨询的依据。方法通过抽取外周血,进行淋巴细胞培养和多重PCR方法对773例男性生精障碍患者进行染色体核型分析和Y染色体AZF区域微缺失检测。结果染色体数目异常者59例,占总数7.63%;染色体结构异常30例,占总数3.88%;性反转2例,占总数0.26%;染色体正常变异118例,占总数15.27%;AZF区域STS位点缺失23例,占总数2.98%;二项检测异常总发生率为14.75%。结论染色体异常和Y染色体AZF区域微缺失是男性生精障碍的重要因素之一,可以更好的为男性不育症患者提供病因诊断、遗传咨询和治疗方案的选择。更多还原

【Abstract】 Objective: To investigate the genetic abnormality of male spermatogenesis dysfunction.Methods: Both chromosome karyotype and Y-chromosome AZF microdeletion analysis were performed on blood specimens of patients with azoospermia and severe oligozoospermia.Results: 59 cases of patients with azoospermia and severe oligozoospermia showed chromosome number abnormality(7.63%);30 showed chromosome structure aberration(3.88%);2 showed sex reversal(0.26%);23 showed AZF microdeletion(2.98%);total abnormality was 14.75%.Conclusion: Chromosome karyotype and Y-chromosome AZF microdeletion analysis are important genetic assays for male spermatogenesis dysfunction,which can offer the patients with etiologic diagnosis,genetic counseling and choices for therapeuti strategies.更多还原