152例男性不育患者细胞遗传学研究

目的研究男性不育患者的遗传缺陷与精子生成障碍的关系。方法采用G显带分析152例患者外周血染色体核型,并采用计算机辅助精液分析,瑞吉染色检测精子凋亡情况,并采用聚合酶链式反应对其中染色体核型正常的患者进行Y染色体微缺失的检测。结果在152例不育患者中,检出异常核型29例,异常核型发生率为19.08%;其中60例染色体核型正常的不育患者精子凋亡率为（18.26±9.34）%,正常组为（3.52±2.11）%,两组比较有显著性差异;53例染色体核型正常的不育患者有Y染色体微缺失6例,缺失率11.3%,正常对照组未检出Y染色体微缺失。结论染色体核型异常、Y染色体微缺失以及精子凋亡是引起男性不育的重要原因。同时采用这三种遗传学检测方法可以更全面的评价男性不育患者的遗传缺陷情况,更好的为患者提供病因诊断、遗传咨询和治疗方案。

A study of cytogenetics in the 152 cases of male infertility

Objective：To study relationship between the genetic defects and dysgenesis of Sperm of male infertility.Methods：G-banding techniques were used to conduct the routine karyotype analysis of peripheral blood chromosome of 152 patients,and semen parameters were detected by computer assisted sperm analysis,the apoptotic sperm were analyzed by Wright-Giemsa staining,and polymerase chain reaction（PCR）was used to detect Y-chromosome microdeletion with normal karyotype.Result：The rate of abnormal chromosome karyotype was 19.08%（29cases）in 152 cases of the male infertility;The apoptotic rates of sperm in 60 cases of the male infertility with normal karyotype and in fertile was（18.26±9.34）% and（3.52±2.11）%,and difference was significent between two groups;6cases exist Y-chromosome microdeletions among 53 case of male infertility with normal karyotype and the microdeletion rate was 11.3%,No Y-chromosome microdeletions were fouund in normal men.Conclusion：Abnormal chromosome karyotype,Y-chromosome microdeletion and sperm apoptosis play important roles in the male infertility.It is more accurate and comprehensive in evaluating the genetic defects of the male infertility by three genetic methods,which can offer the patients with etiologic diagnosis;genetic counseling and choices for therapeutic strategies.