中文摘要：

ObjectiveThis 学习试图与冠的心疾病( CHD )在年轻病人调查 mitochondrial 基因的基因背景为年轻病人的早预防向一个基础提供幼仔( 45 年)的 CHD.Methods115 案例 CHD 中国汉病人(案例组)， 100 个案例更旧(> 45 年)就医的中国汉 CHD 病人(试验性的组)和通过在在2014年1月之间的 PLA 的医院将军的物理检查(控制组)的健康的人的 100 个案例一般信息，临床的评价，家谱分析，和 mitochondrial 完整的顺序扫描被执行。一耐心的 harbouring 的家谱 C5263T 变化被招募。包括细胞的反应的氧的 Mitochondrial 功能的分析种类( ROS )层次和 mitochondrial 膜潜力( MMP )与 C5263T 变化(变化组)并且没有变化(非变化组)在家谱上被执行在生物化学的测试的 .ResultsThe 差别( P > 0.05 )在案例组和试验性的组之间不是重要的。mitochondrial ND2 基因的 C5263T 单个核苷酸的变化在情况组在 2 个年轻 CHD 病人被观察。这 2 个病人的早熟的 CHD 跟随了母亲的继承的一个模式。变化组( I1 ， II2 )有的更高的 ROS 层次( 4750.82 ???肸?蚐??黥???菧?肀臧??蒚闦鲞?肼迥肸跥???鯥??邭?????????￣觨钰????????￣慇????????￣???湉獁?辇苧?敨整潲瑳畲瑣牵??鏥????钸?肸???際??慇獁蒚?膓?鏥??? 鯧钯胣 ？？

英文摘要：

Objective This study aimed to investigate the genetic background of mitochondrial genes in young patients with Coronary heart disease （CHD） to provide a foundation for the early prevention of young patients with CHD. Methods 115 cases of young （〈 45 years） CHD Chinese Han patients （case group）, 100 cases of older （〉 45 years） Chinese Hart CHD patients （experimental group） hospitalized and 100 cases of healthy people through physical examination （control group） at the General Hospital of PLA between January 2014 and December 2015 were selected. General information, clinical assessment, pedigree analysis, and mitochondrial full sequence scanning were performed. The pedigrees of one patient harbouring the C5263T mutation were recruited. Mitochondrial functional analysis including cellular reactive oxygen species （ROS） levels and mitochondrial membrane potential （MMP） were performed on pedigrees with the C5263T mutation （mutation group） and without the mutation （non-mutation group）. Results The differences in biochemical tests （P 〉 0.05） between the case group and experimental group were not significant. The C5263T single-nucleotide mutation of the mitochondrial ND2 gene was observed in 2 young CHD patients in the case group. The premature CHD of these 2 patients followed a pattern of maternal inheritance. The mutation group （11, 112） had higher ROS levels （4750.82±1045.55 vs. 3888.58 ± 487.60, P= 0.022） and lower MMP levels （P= 0.045） than the non-mutation group （II1, III1, III2）. Conclusion We speculated that the mitochondrial C5263T mutation might be associated with the occurrence CHD in Chinese Hart young people.