特发性无精子症和严重少精子症患者Y染色体基因微缺失分析  

Y chromosome microdeletion in patients with idiopathic azoospermia and severe oligozoospermia

作　　者：孙成亮[1] 刘继红[1] 王少刚[1] 杨为民[1] 叶章群[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院泌尿外科

出　　处：《临床泌尿外科杂志》2004年第12期718-720,共3页Journal of Clinical Urology

摘　　要：目的:研究Y染色体基因微缺失与特发性无精子症和严重少精子症的关系,并建立一个灵敏、操作 简便的分子检测方法。方法:应用实时荧光定量聚合酶链反应(PCR)法对65例特发性无精子症患者、27例严重 少精子症患者进行Y染色体YRRM1、DAZ、DYS1基因微缺失的检测。结果:65例特发性无精子症患者中,3例 发生YRRM1基因微缺失,发生率为4.6%;5例发生DAZ基因微缺失,发生率为7.7%。27例严重少精子症患者 中,1例发生YRRM1基因微缺失,发生率为3.7%;2例发生DAZ基因微缺失,发生率为7.4%。92例患者中均 未发现DYS1基因微缺失。结论:YRRM1和DAZ基因位点的微缺失与特发性无精子症和严重少精子症有一定 的相关性,DYS1基因缺失与男性生精障碍的相关性仍需进一步研究明确。应用荧光定量PCR法检测Y染色体 微缺失具有灵敏、快速、操作简便的特点。Objective:To investigate the microdeletions of Y chromosome in patients with idiopathic azoospermia and severe oligozoospermia and establish a susceptible and simple method for screening Y chromosome microdeletions in infertile men.Methods:The microdeletions of YRRM1 gene, DAZ gene and DYS1 gene on Y chromosome were detected by using the real-time fluorescent PCR in 65 patients with idiopathic azoospermia, 27 patients with severe oligozoospermia.Results:In 3 of 65 cases with idiopathic azoospermia and 1 of 27 cases with severe oligozoospermia, the microdeletion of YRRM1gene was found; In 5 of 65 and 2 of 27, the microdeletion of DAZ gene was found.However, in all case, the microdeletion of DYS1 gene was not detected.Conclusions:Microdeletions on the Y chromosome, especially YRRM1 and DAZ gene, may be a major cause of idiopathic azoospermia and severe oligozoospermia. The real-time fluorescent PCR provides an available method for screening Y-chromosome microdeletions in infertile men.

关 键 词：无精子症 少精子症 Y染色体 基因微缺失 聚合酶链反应 

分 类 号：R698[医药卫生—泌尿科学]