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目的检测我国汉族人群中MEF2A基因存在的多态性位点,调查这些多态性位点与冠状动脉粥样硬化性心脏病发生的相关性。方法用单链构象多态性和(或)聚合酶链反应产物直接测序法对257例冠状动脉粥样硬化性心脏病阳性病例、157例冠状动脉粥样硬化性心脏病阴性对照及242名健康体检者MEF2A基因的编码区和5′非翻译区进行全基因扫描、发现多态性位点,明确多态性各位点的等位基因频率和基因型频率,研究不同基因型与冠状动脉粥样硬化性心脏病发生的相关性。结果在MEF2A基因的编码区中共筛查到4处基因多态性位点,其中3处为单核苷酸多态性位点(891C/T,1305G/A,1353G/T),1处为三联核苷酸缺失多态性位点(1294~1296CCG/-)。经病例-对照研究显示,891C/T位点TT基因型频率在病例组和对照组分别为8.2%和3.9%,经统计学检验差异无统计学意义(P=0.088)。其余3个位点的等位基因频率和基因型频率在病例组和对照组之间分布相近,差异无统计学意义(P>0.05)。结论MEF2A基因的4个多态性位点(891C/T,1305G/A,1353G/T,1294~1296CCG/-)与我国汉族人群中冠状动脉粥样硬化性心脏病的发生无显著相关性。
Objective To detect the polymorphisms of MEF2A gene in Chinese Han population and investigate the association between these polymorphisms and coronary atherosclerotic heart disease. Methods Single-strand conformation polymorphism (PCR-RFLP) and direct sequencing (PCR) were used to detect 257 cases of coronary atherosclerotic heart disease, 157 cases of coronary atherosclerotic heart disease negative control and 242 healthy Genomic DNA was screened in the coding region and the 5 ’untranslated region of MEF2A gene in subjects. Polymorphic loci were identified, allele frequencies and genotype frequencies at each locus were determined, and the relationship between different genotypes and coronary atherosclerosis Relevance of sclerosing heart disease. Results Four polymorphic sites were found in the coding region of MEF2A gene, of which 3 were single nucleotide polymorphisms (891C / T, 1305G / A, 1353G / T) and 1 Triple nucleotide deletion polymorphism (1294 ~ 1296CCG / -). The case-control study showed that the frequency of TT genotype at 891C / T site was 8.2% and 3.9% in the case group and the control group, respectively. There was no significant difference by statistical test (P = 0.088). The other three loci allele frequency and genotype frequencies in the case group and control group distribution similar to the difference was not statistically significant (P> 0.05). Conclusions The polymorphisms of MEF2A gene (891C / T, 1305G / A, 1353G / T and 1294 ~ 1296CCG / -) were not significantly associated with coronary atherosclerotic heart disease in Chinese Han population.