男性生精障碍的细胞遗传学和分子遗传学检测

Cytogenetic and molecular genetic analysis of male spermatogenesis dysfunction

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。方法对91例无精子症患者和42例严重少精子症患者,采用外周血染色体核型分析和Y染色体AZF区域微缺失联合检测。结果91例原发性无精子症患者中,染色体数量异常者16例,占总数17.5%;染色体平衡易位5例,占总数5%;10例AZF区域STS位点缺失,占总数11%;二项检测异常发生率为34%。42例严重少精子症患者检出染色体平衡易位4例,占总数9.5%;AZF区域STS位点缺失5例,占总数11.9%,二项检测异常发生率为21.4%。结论染色体核型分析和Y染色体微缺失是男性生精障碍重要的遗传检测指标。

Objective To investigate the genetic abnormality of male spermatogenesis dysfunction. Methods Both chromosome karyotypic and Y-chromosome AZF microdeletion analysis were performed on 91 blood specimens of idiopathic azoospermia and 42 patients of oligozoospermia patients. Results 16 of 91 azoospermia showed chromosome number abnormality （17.5%）, 5 showed chromosome structure aberration （5.0%）; 10 AZF microdeletion （11%）; total abnormality was 34 %. 4 of 42 oligozoospermia patients showed chromosome structure aberration （9.5%）; 5 showed AZF microdeletion （11. 9%） and total abnormality was 21.4%. Conclusion chromosome Karyotypic and Y-chromosome AZF microdeletion analysis are important genetic assays for male spermatogenesis dysfunction.