摘要目的 研究精子线粒体细胞色素C氧化酶1(CO1)基因变异与完全受精失败的相关性.方法 收集2011年7月至2017年5月于郑州大学第二附属医院生殖中心进行新鲜体外常规受精(IVF)周期及部分卵胞浆内单精子注射(Half-ICSI)周期中汉族人精子236例进行回顾性对照研究.实验组57例精子来源于IVF完全受精失败夫妇,对照组179例精子来源于正常受精夫妇(受精率>50％).通过巢式聚合酶链式反应(PCR)和脱氧核糖核酸(DNA)测序确定精子线粒体DNA(mtDNA)的基因变异.结果 共发现18个纯合变异,15个杂合变异,两组间比较差异未见统计学意义(P>0.05).新发现2个纯合变异位点m.6534A>G和m.7443A>G;3个杂合变异位点m.5963A>G、m.5967T>C和m.7403A>C;1个m.6366dupG重复突变.结论 人类精子线粒体CO1基因变异与完全受精失败无相关性.

abstractsObjective To investigate the relationship between mitochondrial cytochrome C oxidase 1 genovariation and total fertilization failure .Methods A retrospective comparative study was conducted on 236 cases of Han sperm during the freshly conventional in vitro fertilization ( IVF) cycle and part of intracytoplasmic sperm injection ( Half-ICSI) cycle in the reproductive center of the Second Affiliated Hospital of Zhengzhou University from July 2011 to May 2017 .In the experimental group , 57 sperm came from couples who had failed IVF;while in the control group , 179 sperm came from couples who had normal fertilization ( fertilization rate >50％) .Genetic variation of sperm mtDNA was detected by nested polymerase chain reaction (PCR) and DNA sequencing.Results A total of 18 homozygous and 15 heterozygous variants were found .There was no significant difference between the two groups ( P>0.05 ) .Two new homozygous variants were found in this study:m.6534 A>G and m.7443 A>G;three new heterozygous variants were found: m.5963A >G, m.5967T >C and m.7403A >C.In addition, one new repeat variant was found: m.6366dupG.Conclusions Human sperm mitochondrial CO1 gene variation is not associated with total fertilization failure .