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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。
Objective To investigate the relationship between genetic defects and spermatogenesis in male infertility patients. Methods The karyotypes of 152 patients with peripheral blood were analyzed by G-banding, and the sperm apoptosis was detected by computer-aided semen analysis and St. Louis’s staining. The patients with normal karyotypes were analyzed by polymerase chain reaction Missing test. Results In 152 infertile patients, 29 cases of abnormal karyotype were detected, the incidence of abnormal karyotype was 19.08%. The apoptosis rate of 60 infertile patients with normal karyotype was (18.26 ± 9.34)%, normal Group (3.52 ± 2.11)%, there was a significant difference between the two groups; 53 cases of chromosome karyotype of infertility patients with Y chromosome microdeletion in 6 cases, the deletion rate of 11.3%, the normal control group did not detect Y chromosome microdeletions . Conclusion Chromosome karyotype abnormality, Y chromosome microdeletion and sperm apoptosis are the main causes of male infertility. At the same time using these three genetic testing methods can be more comprehensive evaluation of male infertility patients with genetic defects, and better provide patients with etiological diagnosis, genetic counseling and treatment programs.