上海地区原发性男性不育症患者Y染色体AZF基因微缺失的检测

Detection of Y chromosome AZF gene microdeletion in idiopathic infertile males from Shanghai

目的探讨上海地区原发性男性不育症患者无精子因子(AZF)基因微缺失情况及其微缺失特点。方法运用聚合酶链反应(PCR)结合琼脂糖凝胶电泳等方法,对上海地区269例原发性男性不育症患者(无精子症38例、严重少精子症231例)以及10名已生育的正常男性进行了AZFa、AZFb和AZFc微缺失筛查。结果 269例男性不育症患者中发现18例AZF基因STS位点存在缺失,其中14例为AZFc区存在缺失、2例为AZFb+c区存在缺失、1例为AZFa+b+c均缺失、1例为AZFa区存在缺失,总缺失率为6.7%。结论 AZFc区为原发性不育症患者AZF基因筛查的主要候选基因,临床上对原发性不育患者进行AZF基因缺失筛查仍是十分必要的。

Objective To investigate the azoospermia factor（AZF） gene microdeletion and its characteristic in idiopathic infertile males from Shanghai. Methods Polymerase chain reaction and agarose electrophoresis were used to detect microdeletion in AZFa, AZFb and AZFc in 38 patients with idiopathic azoospermia, 231 patients with oligozoospermia and 10 healthy controls. Results AZF gene STS point microdeletion was found in 18 of 269 infertile patients. There were 14 cases in AZFc,2 cases in AZFb ＋ c, 1 case in AZFa ＋ b ＋ c and 1 case in AZFa. The total prevalence rate of microdeletion was 6.7% . Conclusions AZFc is a major gene for AZF gene screening in idiopathic infertile patients. Screening of AZF gene microdeletion for idiopathic infertile patients is essential.