无精子症和重度少精子症不育患者Y染色体微缺失率的临床研究

Occurrence of Y chromosome microdeletion in infertile patients with azoospermia or severe oligospermia

目的对本院男性不育患者的Y染色体长臂上的AZF区进行微缺失检测,研究Y染色体AZF区的微缺失与男性患者不育的相关性。方法回顾性分析2012年4月至2014年4月来我院进行诊治的296例无精子症患者和320例重度少精子症患者,比较Y染色体在无精子症和重度少精子症患者中的缺失率。结果 616例不育男性患者中检出69例AZF区不同程度微缺失,缺失率为11.6%。无精子症患者发生的缺失概率高于重度少精子症患者,无精子症患者中AZF区缺失率为15.2%,重度少精子症患者AZF区缺失率为7.5%。AZF区缺失高频发生于AZFc区,占总缺失的60.9%。结论 Y染色体微缺失在无精子症和重度少精子症患者发生率较高,进行辅助生殖治疗前应进行微缺失检测。

Objective： To detect the occurrence of microdeletions of azoospermia factor（AZF）on the long arm of Y chromosome among the male infertile patients. Methods： The clinical data of 296 azoospermia patients and 320 severe oligospermia patients in our hospital from April 2012 to April 2014 were retrospectively analyzed. The occurrence of Y chromosome microdeletions was compared between the azoospermia and severe oligospermia patients. Results： Y chromosome microdeletions were found in 69（11.6%）patients of 616 infertile patients. The occurrence of Y chromosome microdeletions in azoospermic patients [15.2% （45/296）1 was higher than that in severe oligospermic patients [-7.5% 24/320）-]. Microdeletion of AZFc region was the most frequent（60.9%）. Conclusions： The occurrence of microdeletions on the long arm of Y chromosome is higher in azoospermic and severe oligospermic patients. The detection of microdeletions should be advised before performing assisted reproductive treatments.