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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 investigate the relationship between mitochondrial ND6 gene mutation and complete fertilization failure. METHODS: A retrospective controlled study of Han sperm in 232 fresh or half-ICSI cycles from July 2011 to April 2014 was collected. In the study group, 45 cases of sperm derived from IVF failed to complete fertilization, and 187 cases of sperm in control group were derived from sperm (fertilization rate> 50%) of normal fertilization couples. Genetic variation in sperm mitochondria is determined by nested PCR and DNA sequencing. Results: A total of 21 homozygous mutations were found, of which 7 homozygous mutations were statistically significant (P <0.05). They were m.14182T> C (4.44% vs 0%), m.14284C> T 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%), of which m.14457T> C was a missense mutation. In addition, a new homozygous mutation 14170A> T was found. Conclusion: There are 7 mitochondrial ND6 m14182T> C, m.14284C> T, m.14362C> T, m.14386T> C, m.14457T> C, m.14494T> C and m.14659C> T Site variation may be a risk factor for failure of complete fertilization.