男性不育症和Galntl5基因突变位点的相关性

Correlation between Male Infertility and Galntl5 Gene Mutation

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 explore the relationship and significance between male infertility and Galntl5 gene mutation in patients with male infertility. Methods： The Galntl5 gene were detected by PCR technique combined with agarose gel electrophoresis and gene se- quence analysis in 119 primary infertile patients and 135 normal subjects who had offsprings. Results： G323A, one gene mutation site of Galntl5 gene, which is the essential gene for sperm development, was found to be candidate gene for male asthenozoospermia. The study demonstrates that G323A, in the coding region of GALNTL5 gene, may be one of the causative factors of oligospermia and azoospermia and can result in male infertility. Clinically, it is necessary to perform a screening examination for G323A gene in male patients with pri- mary infertility.