MEF2A基因SNP多态性与冠心病的相关性研究

发布时间：2018-01-04 11:29

  本文关键词：MEF2A基因SNP多态性与冠心病的相关性研究　出处：《重庆医科大学》2016年硕士论文　论文类型：学位论文

  更多相关文章： 冠状动脉粥样硬化性心脏病 MEF2A基因 单核苷酸多态性

【摘要】：目的:探讨MEF2A基因的2个SNP(rs325400和rs34851361)位点在我国西南地区汉族人群中与冠心病(Coronary Artery Disease,CAD)的发生有无相关性。方法:(1)查询美国国家生物信息中心(NCBI)中SNP数据库,查询到MEF2A基因rs325400和rs34851361的序列信息,然后用Primer Premier 5.0引物设计软件及NCBI在线Blast软件完成引物设计。(2)对90例经冠脉造影检查确诊的CAD患者及130例健康体检正常对照者DNA进行PCR扩增。(3)在PCR的基础上利用限制性片段长度多态性(Restriction Fragment Length Polymorphism,RFLP)及核苷酸测序技术分析MEF2A基因rs325400和rs34851361多态性位点基因型的分布情况。(4)利用SPSS17.0统计软件比较CAD组及对照组的基因型、等位基因频率的分布差异及其与CAD发病的关系。结果:(1)CAD组MEF2A基因rs325400(A/G)位点的基因型分布为AA(23.3%)、AG(42.2%)、GG(34.5%),等位基因频率为A(44.4%)、G(55.6%);对照组MEF2A基因rs325400(A/G)位点的基因型分布为AA(10.8%)、AG(29.2%)、GG(60.0%),等位基因频率为A(31.2%)、G(68.8%),两组间基因型及等位基因频率分布比较有统计学差异(χ~2=7.750,P=0.021;χ~2=8.098,P=0.004),符合Hard-Wenberg平衡,其结果具有人群代表性。(2)MEF2A基因rs34851361位点在两组检测结果中均只发现AA基因型,其结果不符合Hard-Wenberg平衡,该位点基因型频率不具备人群代表性。结论:MEF2A基因单核苷酸多态性rs325400(A/G)可能与CAD的发病相关,且携带A等位基因的人群罹患CAD的风险性可能较未携带该等位基因的人群高。
[Abstract]:Objective: To investigate the effect of 2 SNP MEF2A genes (rs325400 and rs34851361) loci in Chinese Han population in Southwest China with coronary heart disease (Coronary Artery Disease, CAD) had no correlation. Methods: (1) the US National Center for Biotechnology Information (NCBI) in the SNP database, query the sequence information of MEF2A gene and rs325400 rs34851361, then the primers were designed by use of the Primer Premier 5 primer design software and NCBI Blast software. (2) of 90 cases of CAD patients diagnosed by coronary angiography and 130 healthy normal controls DNA PCR amplification. (3) using restriction fragment length polymorphism (on the basis of PCR Restriction Fragment Length Polymorphism, RFLP) and analysis of MEF2A gene rs325400 and rs34851361 polymorphisms were genotype distribution of nucleotide sequencing technology. (4) by using the statistical software SPSS17.0 between CAD group and control group group 鍥犲瀷,绛変綅鍩哄洜棰戠巼鐨勫垎甯冨樊寮傚強鍏朵笌CAD鍙戠梾鐨勫叧绯，

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