本文關(guān)鍵詞：MEF2A基因SNP多態(tài)性與冠心病的相關(guān)性研究　出處：《重慶醫(yī)科大學(xué)》2016年碩士論文　論文類型：學(xué)位論文

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【摘要】：目的:探討MEF2A基因的2個SNP(rs325400和rs34851361)位點在我國西南地區(qū)漢族人群中與冠心病(Coronary Artery Disease,CAD)的發(fā)生有無相關(guān)性。方法:(1)查詢美國國家生物信息中心(NCBI)中SNP數(shù)據(jù)庫,查詢到MEF2A基因rs325400和rs34851361的序列信息,然后用Primer Premier 5.0引物設(shè)計軟件及NCBI在線Blast軟件完成引物設(shè)計。(2)對90例經(jīng)冠脈造影檢查確診的CAD患者及130例健康體檢正常對照者DNA進行PCR擴增。(3)在PCR的基礎(chǔ)上利用限制性片段長度多態(tài)性(Restriction Fragment Length Polymorphism,RFLP)及核苷酸測序技術(shù)分析MEF2A基因rs325400和rs34851361多態(tài)性位點基因型的分布情況。(4)利用SPSS17.0統(tǒng)計軟件比較CAD組及對照組的基因型、等位基因頻率的分布差異及其與CAD發(fā)病的關(guān)系。結(jié)果:(1)CAD組MEF2A基因rs325400(A/G)位點的基因型分布為AA(23.3%)、AG(42.2%)、GG(34.5%),等位基因頻率為A(44.4%)、G(55.6%);對照組MEF2A基因rs325400(A/G)位點的基因型分布為AA(10.8%)、AG(29.2%)、GG(60.0%),等位基因頻率為A(31.2%)、G(68.8%),兩組間基因型及等位基因頻率分布比較有統(tǒng)計學(xué)差異(χ~2=7.750,P=0.021;χ~2=8.098,P=0.004),符合Hard-Wenberg平衡,其結(jié)果具有人群代表性。(2)MEF2A基因rs34851361位點在兩組檢測結(jié)果中均只發(fā)現(xiàn)AA基因型,其結(jié)果不符合Hard-Wenberg平衡,該位點基因型頻率不具備人群代表性。結(jié)論:MEF2A基因單核苷酸多態(tài)性rs325400(A/G)可能與CAD的發(fā)病相關(guān),且攜帶A等位基因的人群罹患CAD的風(fēng)險性可能較未攜帶該等位基因的人群高。
[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,絳変綅鍩哄洜棰戠巼鐨勫垎甯冨樊寮傚強鍏朵笌CAD鍙戠梾鐨勫叧緋，

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