Y染色体基因微缺失在严重少精子症和无精子症中的应用  

Analysis of Y chromosome microdeletion:an effective diagnostic method for idiopathic male infertility

作　　者：王洪华[1] 薛文群[1] 周小金[1] 胡玲卿[1] 龚健[1] 陈道桢[1] 俞红英[1] 

机构地区：[1]江苏无锡市妇幼保健院,无锡214002

出　　处：《中国男科学杂志》2009年第3期50-53,共4页Chinese Journal of Andrology

摘　　要：目的利用Y染色体基因微缺失的检测来明确少精子症、无精子症患者病因。方法采用多重聚合酶链反应技术,针对31例严重少精子症和9例无精子症患者与对照组41名已正常生育的男性,进行AZFa、AZFb、AZFc、3个区域共12个序列标签位点(sequence tag site,STS)的微缺失分析。结果严重少精子症31例中发现Y染色体微缺失6例,无精子症9例中发现Y染色体微缺失3例,而正常对照组41例均未发现Y染色体微缺失。此研究中发现缺失形式有2种,分别是AZFa+AZFb+AZFc区的全缺失和AZFc区的单独缺失。结论Y染色体微缺失与精子发生障碍导致的不育有一定的联系。Objective To evaluate the microdeletion of Y chromosome in the diagnosis of idiopathic infertile men with azoospermia and severe oligozoospermia. Methods A total of 40 patients including 9 idiopathic azoospermia, 31 severe idiopathic oligozoospermia, and 41 healthy male controls were enrolled in the study. With multiplex PCR technique, 12 sequence tag sites（STS）in AZFa, AZFb and AZFc microdeletion were analyzed. Results Y chromosome microdeletion was found in 6 of the 31 males with severe oligozoospermia and 3 of the 9 males with azoospermia. No microdeletion was detected in all 41 normal fertile men. The two patterns of microdeletion were identified including AZFa＋AZFb＋AZFc Y chromosome microdeletion and only AZFc Y chromosome microdeletion. Conclusion Analysis of Y chromosome microdeletion was a valuable diagnostic method for male infertility of idiopathic azoospermia and severe oligozoospermia.

关 键 词：Y染色体 少精子症 不育 男性 

分 类 号：R698.2[医药卫生—泌尿科学]