线粒体ATPase-6基因多态性与男性精子活力的关系  

Association between mitochondrial ATPase-6 gene polymorphism with male sperm motility

作　　者：莫毅[1] 梁方方[2] 谢伟[1] 王娟[1] 叶健[1] 谢丹尼[1] 

机构地区：[1]广西壮族自治区人口和计划生育研究中心,南宁530021 [2]广西畜牧研究所

出　　处：《山东医药》2013年第17期15-17,共3页Shandong Medical Journal

基　　金：广西壮族自治区人口和计划生育委员会科研课题(桂人口计生研1106)

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,分析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 fre- quency 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 gen- otype 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 !1 restriction enzyme cutting site mutation may affect the efficiency of ATPase-6 translation, thereby affecting sperm motility and causing asthenozoospermia.

关 键 词：弱精子症 精子活力 ATPase-6基因 ATP合成酶6亚基 聚合酶链式反应-限制性片段长度多态性分析 

分 类 号：R342.3[医药卫生—基础医学]