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目的探讨男性不育患者染色体核型异常及无精症因子(AZF)基因缺失与男性不育的关系。方法对2012年5月~2014年5月来本院就诊的(重庆地区)原发性男性不育患者165例,进行外周血G显带核型分析并采用多重PCR对无精症因子区域的15个标签序列位点进行检测。结果 165例生精障碍患者中染色体异常共检出5例,1例为男性性反转(46,XX),1例为克氏综合征(47,XXY),1例为47,XY,+mar,1例为46,XY,y≥18,1例46,XY,in(9),其余均为正常核型,总异常率为3.03%(5/165);AZF基因位点发生微缺失患者共检出25例,总缺失率为15.15%。结论染色体异常和AZF微缺失是男性不育的重要原因,对男性不育诊断时有必要进行检查。
Objective To investigate the relationship between chromosomal karyotype abnormality and the absence of azoospermia factor (AZF) gene in male infertility and male infertility. Methods A total of 165 primary male infertility patients in Chongqing from May 2012 to May 2014 were enrolled in this study. Peripheral blood G-banding karyotype analysis was performed and multiplex PCR was used to detect polymorphism in the azoospermia region 15 tag sequence sites for testing. Results There were 5 cases of chromosomal abnormalities in 165 patients with spermatogenic disorders, 1 case of male sexual inversion (46, XX), 1 case of Kirschner ’s syndrome (47, XXY), 1 case of 47, XY, Mar, 1 case was 46, XY, y≥18, 1 case 46, XY, in (9), the rest were normal karyotype, the total abnormal rate was 3.03% (5/165); microdeletion of AZF locus A total of 25 patients were detected, the total loss rate was 15.15%. Conclusion Chromosomal abnormalities and AZF microdeletions are the important causes of male infertility. It is necessary to check the diagnosis of male infertility.