人类精子线粒体C01基因变异与完全受精失败的相关性

Relationship between human sperm mitochondrial CO1 gene variants and total fertilization failure

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。

Objective 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.6534A>G and m.7443A>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.