KATNAL1基因突变筛查及其与无精症的相关性分析

KATNAL1 Gene Mutation Screening and its Association with Azoospermia

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。

Ltd; Objective： To explore the association between a mutation of male sterility gene Katnal15 and the male infertility and its significance. Methods： Katnal1 gene of 77 primary infertile patients and 84 normal fertile male was detected by PCR techniques combined with agarose gel electrophoresis and gene sequence analysis. Results： A236 G,an important disease-causing gene mutation site of Katnal1 gene which was essential for sperm development, was found to be the candidate screening gene for male azoospermia.Conclusion： The study demonstrates that A236 G in the coding region of KATNAL1 gene may be one of the causative factors of oligospermia and azoospermia, resulting in male infertility. Clinically, it is necessary to perform a screening examination for A236 G gene within the male primary infertile patients.