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

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。

Y chromosome microdeletion in patients with idiopathic azoospermia and severe oligozoospermia

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.