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作 者:刘本荣[1] 熊玉娟[2] 钟赟[1] 莫沛[1] 李爱群[1] 熊龙根[1]
机构地区:[1]广州医科大学附属第二医院心血管疾病研究所,广东广州510260 [2]广州中医药大学第二临床学院检验科,广东广州510105
出 处:《基础医学与临床》2015年第11期1476-1480,共5页Basic and Clinical Medicine
基 金:国家自然科学基金(81370463);广东省科技计划(2011B061300059);广州市属高校科技项目(10A221)
摘 要:目的研究MEF2A启动子多态性对其转录活性的影响及与冠心病(CAD)易感性的关系。方法 CAD患者44例,正常对照45例,用DNA测序鉴定MEF2A启动子区的单核苷酸多态性(SNP),以克隆测序确定启动子单倍型,采用双萤光素酶报告基因系统评价不同启动子单倍型的转录活性,比较两组中的单倍型频率及纯合率差异。结果发现9个SNPs,它们组成18种单倍型,其中H1(16.29%)、H5(17.42%)、H8(16.85%)和H16(28.65%)的频率较高,占总数的79.21%。H5和H8的转录活性最高,H9次之,其他单倍型的活性较低。-580(C->A)、-646(G->T)和-948(C->T)位点的碱基改变导致转录因子结合位点(TFBS)丢失。由-948(C/T)、-646(G/T)和-580(C/A)组成的单倍型有CGC(17.98%)、CGA(3.94%)、TGA(36.51%)、TTC(33.15%)、TTA(3.94%)、TGC(3.37%)和CTC(1.69%),其中包含TGA的单倍型的转录活性最高。CAD组中MEF2A启动子纯合率显著高于对照组(P<0.05)。结论 MEF2A启动子区的SNPs导致TFBS改变,不同单倍型具有转录活性差异,其启动子纯合率与CAD易感性呈正相关。Objective To explore the influence of the polymorphisms in the promoter of myocyte enhancer factor2A( MEF2A) on the promoter activity,and the relationship of the polymorphisms with the susceptibility to coronary artery disease( CAD). Methods Forty-four CAD patients and 45 controls were enrolled. The single nucleotide polymorphisms( SNPs) in the promoter of MEF2 A and the promoter haplotypes were identified with cloning and Sanger DNA sequencing. The transcription activity of the different promoter haplotypes were determined with dual luciferase reporter system. The frequency of the haplotypes and the homozygosity were compared between CAD and control group. Results Nine SNPs were found, and they combined into 18 haplotypes. H1( 16. 29%),H5( 17. 42%),H8( 16. 85%) and H16( 28. 65%) are the most popular haplotypes,and take 79. 21% of the total.H5 and H8 showed the highest transcription activity,and H9 was next,the others were relative weak. Three SNPs,- 580( C-〉 A),- 646( G- 〉T) and- 948( C-〉 T),cause a loss of predicted transcription factor binding site( TFBS). The haplotypes clustered with this 3 SNPs and the frequency was shown as follow: CGC( 17. 98%),CGA( 3. 94%),TGA( 36. 51%),TTC( 33. 15%),TTA( 3. 94%),TGC( 3. 37%),CTC( 1. 69%). The haplotype with TGA showed the strongest transcription activity. The homozygosity in CAD group is markedly higher than that in the control group( P 〈0. 05). Conclusions The SNPs in the promoter of MEF2 A may lead to change of TFBS.The different haplotypes have distinct promoter activity,and the homozygosity of MEF2 A promoter may contribute to a higher susceptibility to CAD.
关 键 词:肌细胞增强因子2A 启动子 单核苷酸多态性 冠心病
分 类 号:R541.4[医药卫生—心血管疾病]
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