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目的:探讨男性不育症患者Katnal15基因的一个突变位点与男性不育症的关系及意义。方法:运用聚合酶链反应(PCR)结合琼脂糖凝胶电泳和基因序列分析等方法,对77例原发性男性不育患者以及84名已生育的正常男性进行Katnal1基因筛查。结果:与精子形成的关键基因KATNAL1中1个致病突变位点A236G为的男性精子无力症Katnal1基因筛查的主要候选基因。结论:Katnal1基因蛋白质编码序列区A236G可能是特发性少精无精症的诱发因素之一。临床上对原发性不育患者进行A236G基因突变筛查是十分必要的。
Objective: To investigate the relationship and significance of a mutation site of Katnal15 gene in male infertility with male infertility. Methods: The kalnal1 gene was screened in 77 patients with primary male infertility and 84 normal fertile men by polymerase chain reaction (PCR) combined with agarose gel electrophoresis and gene sequence analysis. RESULTS: The main candidate gene of Katnal1 gene in male infertility was A236G, a disease-causing mutation in the key gene of sperm KATNAL1. Conclusion: The A236G coding region of Katnal1 gene may be one of the predisposing factors for idiopathic oligospermia. Clinically, infertility patients with primary A236G gene mutation screening is very necessary.