特发性无精子症和少精子症患者无精子因子的研究  

Study on Azoospermia Factors’Candidate Genes in Severe Oligozoospermia and Idiopathic Azoospermia in Chinese Persons

作　　者：陈荣安[1] 廖国栋[1] 向桂桥[1] 江利[1] 许良余[1] 张益康[1] 李兴欢[1] 

机构地区：[1]南华大学第一附属医院,湖南衡阳421001

出　　处：《南华大学学报（医学版）》2005年第1期56-59,共4页Journal of Nanhua University(Medical Edition)

基　　金：湖南省教委科研基金资助课题;No :0 2c40 6

摘　　要：目的　探讨国人特发性无精子症和少精子症患者Y染色体长臂近端无精子因子基因变异情况。方法　运用聚合酶链反应技术对 40例特发性无精子症和 7例严重少精子症患者以及 40例正常生育男性的Y染色体AZF区域的 5个序列标签位点和Y染色体性别决定区进行检测。结果　在 47例患者中发现 5例 ( 1 0 .64% )存在缺失 ,SRY在所有的待测标本中存在 ,在 40例正常生育男性中未发现有目标基因的缺失。结论　Y染色体长臂上的微小缺失是导致国人特发性无精子症和严重少精子症的危险因素之一 ;USP9Y可能对生精过程的调控作用有限 ;相对于AZFb区域 ,基因缺失在AZFc区域和AZFa区域发生较多 。Objective To detect the role of azoospermia factors located on proximal Yq in spermatogenesis among Chinese patients with idiopathic azoospermia and oligozoospermia. Methods Five sequence-tagged sites and SRY regions of the Y chromosome were selected. Forty azoospermia, seven oligozoospermia patiens and 40 fertile men were evaluated using polymerase chain reaction technique. Results Five of 47 patiens (10.64%) with the AZFa or AZFc deletion were found, no deletion in the AZFb or SRY regions were found. No deletion was found in 40 fertile men. Conclusions Microdeletions in Yq is one of the risk factors to the Chinese patients with azoospermia or severe oligospermia; USP9Y gene may be minor to the spermatogenesis in some extent; for more microdeletions were found in the two regions than in AZFb region, analysis of microdeletions should be focused on AZFa and AZFc regions before the treatment of intracytoplasmic sperm injection (ICSI).

关 键 词：微缺失 Y染色体 男性不育症 AZF 

分 类 号：R698.2[医药卫生—泌尿科学]