不育男性无精子因子基因检测分析

目的筛查男性不育患者Y染色体无精子因子（AZF）区域微缺失情况,探讨AZF基因微缺失与原发无精、严重少精症之间的关系。方法采用多重聚合酶链反应（PCR）技术,对某市118例原发无精子症、84例原发严重少精症患者及66例正常生育男性进行Y染色体AZF基因家族AZFa、AZFb、AZFc三个区域微缺失分析。结果 66例正常生育男性未发现Y染色体AZF区域微缺失,202例生精障碍患者中发现AZF微缺失25例,总缺失率为12.4%。其中12例无精症患者和5例少精症患者的缺失发生在AZFc区域,缺失率为8.4%;1例无精症患者和2例少精症患者发生AZFb、AZFc双重缺失,缺失率为1.5%;1例无精症患者发生AZFa、b、c三个区域同时微缺失,缺失率为0.5%。生精障碍组与正常生育男性组比较Y染色体AZF区域微缺失率差异具有显著性（P〈0.001）。结论 Y染色体AZF区域微缺失是引起男性无精、少精子症的重要原因之一,对原发无精、少精子症患者在单精子注射（ICSI）之前进行微缺失筛查是必要的。

Analysis of microdeletions of azoospermia factor on the Y chromosome in male infertile patients

Objective： To investigate the relationship between microdeletion of azoospermia factor（AZF） and male infertility.Methods： Multiplex PCR was used to detect Y chromosome microdeletion in AZFa,AZFb and AZFc of 118 cases of idiopathic azoospermia,84 cases of severe idiopathic oligozoospermia,and 66 cases of healthy male controls.Results： No microdeletion was found in 66 controls.Y chromosome microdeletion was found in 25 of 202 azoospermia patients,the total p revalence rate of microdeletion was 12.4%.There were 17 cases（12 for azoospermia,5 for severe oligozoospermia） in AZFc（8.4%）;3 cases（1 for azoospermia,2 for severe oligozoo spermia） in AZFb＋c（1.5%）;1 case（1 for azoospermia） in AZFa＋b＋c（0.5%）.According to statistics,the difference between two groups was significant（P0.001）.Conclusion： Y chromosome microdeltions is an important reason for azoospermia,and the screening of Y chromosome microdeletions for azoospermia patients before ICSI treatment is essential.