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目的探讨广西地区男性不育患者Y染色体微缺失结果情况和临床遗传效应。方法采用染色体技术、PCR技术等对2180例男性不育患者进行外周血染色体分析及Y染色体微缺失6个系列标签位点检测。结果 2180例样本Y染色体AZF基因检测和Y染色体异常分别为总缺失率为6%(130/2180)和3.3%(71/2180)。同时发现Y染色体AZF基因缺失在生精障碍组与正常组、不孕产史组具有统计学意义;Y染色体核型以小Y和染色体多态性常见。结论男性不育患者与Y染色体微缺失及细胞核型所表现临床遗传效应密切相关,对于生殖异常的男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因,更好的为患者提供病因诊断、遗传咨询和治疗方案。
Objective To investigate the results of Y chromosome microdeletions and clinical genetic effects in male infertility patients in Guangxi. Methods 2180 cases of male infertility were analyzed by chromosomal technique and PCR technique, and 6 series of Y chromosome loci were detected. Results 2180 cases of Y chromosome AZF gene detection and Y chromosome abnormalities were 6% (130/2180) and 3.3% (71/2180) respectively. Also found that Y chromosome AZF gene deletion in the spermatogenic disorders group and the normal group, history of infertility with statistical significance; Y chromosome karyotype with small Y and chromosome polymorphisms common. Conclusion Male infertility patients are closely related to the clinical genetic effect of Y chromosome microdeletion and nuclear karyotype. Peripheral blood chromosome examination and AZF microdeletion test in genital male may help to clarify the genetic cause, Provide etiological diagnosis, genetic counseling and treatment programs.