论文部分内容阅读
目的:探讨男性不育症患者Galntl55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119例原发性男性不育症患者以及135名已生育的正常男性进行Galntl5基因筛查。结果:与精子形成相关的关键基因GALNTL5中1个突变位点G323A和男性不育症存在一定相关性。因此Galntl5基因蛋白质编码序列区G323A可能是特发性少精症无精症的诱发因素之一。临床上对原发性不孕不育患者进行GALNTL5基因突变筛查是十分必要。
Objective: To investigate the relationship between the mutation of Galntl55 gene in male infertility and male infertility. Methods: Galntl5 gene screening was performed in 119 patients with primary male infertility and 135 normal fertile men by polymerase chain reaction (PCR) combined with agarose gel electrophoresis and gene sequence analysis. Results: There was a correlation between G323A, a mutation in GALNTL5, and male infertility, the key gene involved in spermatogenesis. Therefore, G323A, a protein coding region of Galntl5 gene, may be one of the predisposing factors for idiopathic oligospermia. Clinically, infertility patients with primary infertility GALNTL5 mutation screening is very necessary.