小Y染色体与无精子因子微缺失的关系及家系研究  

Pedigree ahalysis on the relationship between small Y and azoospermia factor microdeletion

作　　者：董媛[1] 姜雨婷[1] 李磊磊[2] 武婧[1] 李琳琳[1] 朱海波[1] 刘睿智[1] 

机构地区：[1]吉林大学第一医院生殖医学中心产前诊断中心,长春130021 [2]吉林大学白求恩医学院细胞生物学系

出　　处：《中华泌尿外科杂志》2013年第6期414-416,共3页Chinese Journal of Urology

基　　金：2011年国家人口和计划生育委员会科学技术司项目（2011-GJKJS-07）

摘　　要：目的探讨小Y染色体与无精子因子（AZF）微缺失的关系及小Y染色体对男性不育的影响。方法回顾性分析2010年5月至2011年10月379例男性不育患者外周血染色体检查资料，对检出的小Y染色体患者补充C显带和AZF微缺失检查，对其父及兄、弟等行相同检查。结果检出小Y染色体8例，其父或兄、弟染色体核型均与先证者一致。8例小Y染色体患者中，AZF微缺失3例，其父AZF所测位点均存在；另5例小Y染色体患者及其父、兄AZF基因均存在。结论从家系角度分析小Y染色体核型不是引起男性不育的关键因素。存在AZF微缺失的小Y染色体患者，其不育可能是由AZF微缺失引起。无AZF微缺失的小Y染色体核型对男性不育无明确影响。Objective To study the relationship between small Y and azoospermia factor （AZF） microdeletions and the effect on male infertility. Methods Data of 379 infertile males of chromosomal karyotype analysis from May 2010 to October 2011 were investigated. Patients with small Y chromosome were also performed C banding and AZF microdeletions, and their fathers and brothers were offered the same ex-aminations. Results Eight patients were small Y chromosome, and their fathers or brothers＇ chromosome karyotypes were consistent with the probands. Among the 8 cases, there were 3 patients with AZF microde- letions, while their fathers and brothers didn＇t have microdeletions. Another 5 cases of small Y and their fa- thers did not exist AZF microdeletions. Conclusions The small Y karyotype is not the key factors that cause male infertility. The reason for infertile patients with small Y and AZF mierodeletions was maybe the microdeletions. However, patients with small Y but without AZF microdeletions are not important to male in-fertility.

关 键 词：小Y染色体 无精子因子微缺失 男性不育 家系研究 

分 类 号：R698.2[医药卫生—泌尿科学]