原发生精障碍者Y染色体AZF区域微缺失基因诊断

目的对男性不育患者Y染色体AZF区域微缺失进行基因诊断。方法采用多重PCR-凝胶电泳技术对23例原发性无精症患者、28例原发性少精症患者和7例正常生育男性对照进行Y染色体微缺失检测。结果23例原发性无精子症患者中,5例发生了Y染色体微缺失,缺失率为21.7%,在28例少精症患者中,有6例发生缺失,其缺失率为21.4%。其中无精症(AZFa)区sY86缺失1例(2.0%);AZFb区sY127缺失1例(2.0%),sY134缺失1例(2.0%),sY127和sY134同时缺失1例(2.0%);AZFc区sY254缺失1例(2.0%),sY254和sY255同时缺失4例(8.0%)。7例正常生育男性均未检测到Y染色体微缺失。结论男性不育患者Y染色体AZF区域6个STS位点微缺失与男性原发性无精症和少精症密切相关,采用多重PCR技术进行微缺失分析简便、快速、准确,值得推广应用。

Gene diagnoses of Y-chromosome AZF microdeletion in primary spermatogenesis impairment

Objective To evaluate the relationship between Y chromosome microdeletion and male azoospermia.Methods Multiplex PCR was used to detect Y chromosome microdeletion in 51 azoospermia patients and 7 healthy controls.Results Y chromosome microdeletion was found in 11 (21.6%) of 51 azoospermia patients.Among the cases, 1 (2.0%) deletions were in sY86 (AZFa), 1 (2.0%) deletions were in sY127 (AZFb) ,1 (2.0%) deletions were in sY134 (AZFb), 1 (2.0%) deletions were in both sY127 and sY134,1 (2.0%) deletions were in sY254 (AZFc) and 4 (8.0%) deletions were in both sY254 and sY255. No microdeletion was found in 7 controls.Conclusion Y chromosome microdeletion might be closely related to azoospermia.