Y染色体AZF微缺失和染色体异常与无、少精子症不育患者的临床研究  

Clinical signification of Y chromosomal AZF microdeletions and chromosomal anomalies in the zoospermia and oligospermia male infertility

作　　者：曾兰[1] 魏萍[1] 陈希敏 秦胜芳[1] 邓艺[1] 陈春[1] 李运星[1] ZENG Lan;WEI Ping;CHEN Xi-ming;QIN Sheng-fang;DENG yi;CHEN Chun;LI Yun-xing(Department of Medical Genetics and Prenatal Diagnosis,Sichuan Provincial Hospital for Women and Children,Chengdu 610031,Sichuan Province,China)

机构地区：[1]四川省妇幼保健院医学遗传和产前诊断科,四川成都610031

出　　处：《中国优生与遗传杂志》2018年第10期55-58,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Y染色体AZF微缺失和染色体核型异常在无精子症、少精子症不育患者中的临床意义。方法回顾性分析2012年7月到2016年12月来本院诊治的175例无精子症和少精子症患者,采用多重聚合酶链反应进行Y染色体无精子因子(AZF)微缺失检测;制备外周血染色体并进行核型分析。结果在175例不育男性患者中检出20例不同程度AZF基因微缺失,缺失率为11.4%(20/175),AZF区缺失高频发生于AZFc+d区和AZFc区,占总缺失的55%(11/20)和25%(5/20)。检出7例47,XXY,6例染色体异常,5例常染色体多态,6例Y染色体多态。结论染色体异常与Y染色体微缺失是无精子症、少精子症患者的重要病因,对男性不育患者进行Y染色体AZF微缺失筛查很有必要,为男性不育临床诊断和治疗提供科学依据。Objective：To assess the relevant relationship and clinical significance of Y chromosomal microdeletions and chromosomal anomalies in the zoospermia and oligospermia male infertility. Methods：The clinical data of 175 azoospermia and oligospermia patients in hospital from July 2012 to December 2016 were retrospectively analyzed.Y chromosome AZF microdeletions were detected using multiplex PCR.Aryotype analysis was performed in peripheral blood lymphocytes using standard G-banding on all cases. Results：Y chromosome microdeletions were found in 20（11.4%）patients of 175 infertile patients.Microdeletion of AZFc＋d region and AZFc region were the most frequent（55%,25%）.7 cases of 47,XXY,6 cases of chromosome abnormalities,5 cases of autosomal polymorphism,6 cases of Y chromosome polymorphism were detected from the 175 patients. Conclusion：Chromosomal anomalies and Y chromosome microdeletions are major causes for the zoospermia and oligospermia male,so it is necessary to screening microdeletion of AZF on Y chromosome for the patients with male infertility.The detection will provide scientific indications for diagnosis and treatment of male infertility.

关 键 词：无精子症 少精子症 Y染色体微缺失 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]