165例男性不育染色体核型及AZF基因缺失分析

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15.15S。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。

Analysis of chromosome abnormalities and azoospermia factor microdeletions in 165 infertility males

Objective： To study the relationship between chromosome abnormalities and Y chromosome microdeletions of azoospermia factor （AZF） in males with infertility. Methods： A case-control study was conducted in 165 reproductive failure men with from our hospital of Chongqing. Chromosome Karyotype analysis was detected by Peripheral Blood chromosome G-band detection method. AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by multiplex PCR amplification of 15 sequence-tagged sites. Results： Chromosomal abnormalities were found in 4 cases of 156 infertile patients. There were 1 case in 46XX female; 1 case in 47XXY; 1 case in 47XY＋mar; 1 case in 46XY, y≥18 and 1case in 46XY, in （9） . The total rate of chromosomal abnormalities was 3.03%. Screening 165 blood samples STS marker of AZF regions showed AZF microdeletions in 25 （15.15%） patients. Conclusion： Chromosome abnormalities and AZF microdeletions are major factors for idiopathic infertile patients. Screening of Chromosome abnormalities and AZF gene microdeletion for idiopathic infertile patients is essential.