中文摘要：

目的线粒体融合基因2是一个新发现的负调控血管平滑肌细胞增殖的基因，在原发性高血压患者血管平滑肌细胞中低表达，但其调控机制还不明确。本研究通过生物信息学方法研究线粒体融合基因2的转录和调控机制。方法通过使用在线软件，对线粒体融合基因2上游5’端的启动子分布、转录因子及其结合位点、CpG岛、TATAbox分析、保守区域等进行分析。同时对该区SNP的分布及其功能进行研究。结果线粒体融合基因2上游5’端存在5个启动子，但是起核心作用的可能只有2个；有2个保守区域，存在69个转录因子结合位点，后者主要与炎症反应、氧化应激、细胞增殖与分化和MAPK、STAT信号传导通路相关；一个CpG岛；15个TATAbox，有8个处于一2000bp以内；32个SNP位点，其中9个处于核心启动子区，5个可能会影响线粒体融合基因2的转录。结论线粒体融合基因2上游5’端一400bp以内可能存在着核心启动子，该启动子区存在着一些重要的与线粒体融合基因2功能相关的转录因子。同时，启动子区存在的大量SNP可能会影响基因的转录调控。

英文摘要：

Aim Mitofusion 2 （Mfn2） is a gene which can negatively regulate the hyperplasia of vascular smooth muscle ceils （VSMC）. The gene is down-regulated in the VSMC of essential hypertensive patients. However, the potential mechanism is undiscovered. The object of this study is to investigate the mechanism of Mfn2 gene transcription and regulation by bioinformatics. Method By using online software, the promoter distribution, transcription factors and their binding sites, CpG island, TATA box, and conservative region were analyzed in the 5＇ uncoding region of Mfn2 gene. Simultaneously, the distribution and function change of SNP were studied. Results There were five promoters in the 5＇ uncoding region of Mfn2 gene, which two of them played a key role in the transcription of Mfn2. Sixty nine tran- scription factors＇ binding sites were found in the two conservative districts. These transcription factors were mainly associ- ated with inflammation, oxidative stress, hyperplasia and differentiation of ceils, MAPK and STAT signal pathway. One CpG island was found. Eight of 15 TATA boxes were found in the region of - 2000 bp upstream of the transcription origin site. Thirty two SNP sites were found, nine were in the core promoter region, and five may affect the transcription of Mfn2. Conclusion The core promoter distributes in the - 400 bp region of 5＇ uncoding region of Mfn2. There were a lot of transcription factors which were closely related with the function of Mfn2 existed. In addition, some SNPs which may affect the transcription regulation of Mfn2 were found in the promoter region.