165例男性不育染色体核型及AZF基因缺失分析  被引量:4

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

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作  者:万凌[1,2] 丁显平[1] 

机构地区:[1]四川大学生命科学学院遗传医学研究所,生物资源与生态环境教育部重点实验室,四川610064 [2]重庆市人口和计划生育科学技术研究院,国家卫生计生委出生缺陷与生殖健康重点实验室,重庆400020

出  处:《中国优生与遗传杂志》2014年第9期55-56,81,共3页Chinese Journal of Birth Health & Heredity

摘  要: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。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.

关 键 词:不育 染色体异常 AZF 

分 类 号:R698.2[医药卫生—泌尿科学]

 

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