线粒体ATPase-6基因多态性与男性精子活力的关系

摘要

目的 探讨线粒体ATP合成酶6亚基(ATPase-6)基因多态性与男性精子活力的关系.方法 选择弱精子症患者319例(观察组)及精子活力正常者344例(对照组),采用聚合酶链式反应—限制性片段长度多态性分析技术检测其线粒体ATPase-6基因(+9 052 bp)的HaeⅡ酶切位点多态性,并对两组的基因型分布及等位基因频率进行Hardy-Weinberg平衡检测,分忻ATPase-6突变基因频率与精子活力的关系.结果 观察组的hh、Hh、HH基因型分布分别为19.74％、1.25％、79.01％,对照组分别为4.94％、0.58％、94.45％,两组基因型分布均处于Hardy-Weinberg平衡范围；但观察组的突变型基因(h)频率明显高于对照组(P＜0.01).结论 ATPase-6基因(+9 052bp) HaeⅡ酶切位点突变可能影响ATPase-6基因的翻译效率,进而影响男性精子活力,引起弱精子症.%Objective To investigate the association between mitochondrial ATPase-6 gene polymorphism with male sperm motility.Methods There were 319 cases of patients with asthenozoospermia (observation group) and 344 cases of normal sperm mobility people (control group).The mitochondrial ATPase-6 gene (+9 052 bp) Hae Ⅱ restriction enzyme cutting site polymorphism was detected by PCR-RFLP analysis technique.Then the genotype distribution and allele frequency of each group were detected by the Hardy-Weinberg equilibrium test,and the association between ATPase-6 gene mutation frequency and sperm motility was analyzed.Results The hh,Hh and HH genotype distributions in observation group were 19.74％,1.25％ and 79.01％,while they were 4.94％,0.58％ and 94.45％ in control group,both the genotype frequency distributions were within the range of Hardy-Weinberg equilibrium; but the mutant gene (h) frequency in observation group was significantly higher than that in control group (P ＜ 0.01).Conclusion ATPase-6 (+ 9 052 bp)gene Hae Ⅱ restriction enzyme cutting site mutation may affect the efficiency of ATPase-6 translation,thereby affecting sperm motility and causing asthenozoospermia.