线粒体ND6基因变异和完全受精失败的相关性  

Association between total fertilization failure and mtDNA variants in ND6 gene

作　　者：黄筱慧 毛跟红[1] 张金兰[1] 陆平[1] 常宏杨 张瑜[1] 冯宗刚[1] 耿旭景[1] 陶识博[1] 李茜[1] 王晓玲[1] 

机构地区：[1]郑州大学第二附属医院妇产科,450000

出　　处：《实用医学杂志》2016年第24期4016-4020,共5页The Journal of Practical Medicine

基　　金：河南省教育厅科学技术研究重点项目(编号:13A320637);河南省卫生科技创新型人才工程中青年科技创新人才项目(编号:4117)

摘　　要：目的:探讨线粒体ND6基因变异与完全受精失败的相关性。方法:2011年7月至2014年4月,共收集了232例新鲜IVF周期或者half-ICSI周期中的汉族人精子进行回顾性对照研究。研究组45例精子来源于IVF完全受精失败,对照组187例精子来源于正常受精夫妇的精子(受精率>50%)。精子线粒体的基因变异是通过巢式PCR和DNA测序来确定。结果:共发现21个纯合变异,其中7个纯合变异具有统计学意义(P<0.05),它们分别是:m.14182T>C(4.44%vs 0%)、m.14284C>T(4.44%vs 0%)、m.14362C>T(4.44%vs 0%)、m.14386T>C(4.44%vs 0%)、m.14457T>C(4.44%vs 0%)、m.14494T>C(6.67%vs 0%)和m.14659C>T(4.44%vs 0%),其中m.14457T>C变异为错义变异。另外,新发现1个纯合变异14170A>T。结论 :精子线粒体ND6基因m.14182T>C、m.14284C>T、m.14362C>T、m.14386T>C、m.14457T>C、m.14494T>C和m.14659C>T等7个位点变异可能是发生完全受精失败的危险因素。Objective To emplore the association of MT-ND6 genovariation with total fertilization failure （TFF）. Methods A retrospective, eomparaive study of 232 fresh IVF cycles or half-lCSI cycles in Han chinese population was perfoI^ed from July 2011 to April 2014. Fourty-five couples had total fertilization failure, and 187 controls with normal fertilization （fertilization rates 〉 50%）. The genovariation was determined by nested PCR and direct sequencing. Results A total of 21 homozygous variants were found in MT-ND6 gene in the TFF group, 7 homozygous variants had statistical significance （P 〈 0.05） ：m.14182T〉C （4.44% vs 0%）,m.14284C〉 T （4.44% vs 0%）,m.14362C〉T （4.44% vs 0%）,m.14386T〉C （4.44% vs 0%）,m.14457T〉C （4.44% vs 0%）, m.14494T〉C （6.67% vs 0%） and m.14659C〉T （4.44% vs 0%）. m.14457T〉C was the missense variant. Furthermore, m.14170A〉T was firstly reported in this study. Conclusion The mtDNA variants of mtDNA （m. 14182T〉C, m.14284C〉T, m.14362C〉T, m.14386T〉C, m.14457T〉C, m.14659C〉T, m.14494T〉C） may be risk factors of TFF.

关 键 词：精子 线粒体 ND6 完全受精失败 变异 

分 类 号：R714.8[医药卫生—妇产科学]