精子生成障碍者染色体异常和无精子因子微缺失分析

Analysis of chromosome abnormalities and microdeletions of azoospermia factor in patients with dyszoospermia

目的:探讨男性精子生成障碍与染色体核型异常和Y染色体无精子因子(AZF)微缺失的相关性,为拟行IC-SI(intracytoplasmic sperm injection,ICSI)技术助孕的患者提供遗传咨询。方法:运用多重PCR检测技术,对333例男性精子生成障碍患者(242例无精子症和91例严重少精子症)Y染色体AZF区域9个序列标签位点(STS)进行扩增分析;并运用G显带技术,对患者外周血染色体核型进行分析。结果:精子生成障碍患者AZF缺失发生率为11.11%(37/333),其中无精子症组缺失率为10.33%(25/242),严重少精子症组缺失率为13.19%(12/91);外周血染色体核型分析发现染色体异常检出率为8.11%(27/333);患者总遗传缺陷发生率为19.22%。结论:染色体核型异常和Y染色体微缺失是导致无精子症和严重少精子症的重要遗传因素;在行辅助生殖治疗前,患者须行遗传学检查以避免有遗传缺陷的后代出生。

Objective： To explore the correlation between male dyszoospermia and abnormal chromosome karyotypes, microdeletions of azoospermia factor of Y chromosome, provide genetic consultation for patients demanding intracytoplasmic sperm injection （ICSI） . Methods： Nine sequence tagged sites of azoospermia factor of Y chromosome of 333 men with dyszoospermia （242 cases of azoospermia and 91 cases of severe oligospermatism） were amplified and analysed; chromosome karyotypes in peripheral blood were analysed by G - band. Results： The incidence of microdeletions of azoospermia factor was 11.11% （37/333） , the incidences of microdeletions of azoospermia factor in azoospermia group and severe oligospermatism group were 10. 33% （25/242） and 13. 19% （12/91） ; the detection rate of abnormal chromosome karyotypes was 8. 11% （27/333） ; the total incidence of genetic defects was 19. 22%. Conclusion： Abnormal chromosome karyotypes and microdeletions of azoospermia factor of Y chromosome are important genetic factors that induce azoospermia and severe oligospermatism ; genetic examination should be conducted before assisted reproductive treatment in order to avoid the birth of offsprings with genetic defects.