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目的探讨重庆地区汉族人群MEF2A基因第11外显子CAG重复序列多态性与冠心病易感性的关系。方法对232例冠心病患者及240名对照者的MEF2A基因第11外显子进行PCR扩增和DNA直接测序,以检测CAG重复序列多态性,并结合临床资料进行分析。结果未发现MEF2A基因11号外显子存在21碱基对的缺失突变,MEF2A基因11号外显子CAG重复序列存在多态性,等位基因频率分布在两组间的差异无统计学意义(P>0.05);CAG重复序列多态性与冠心病无明显相关性(P>0.05)。结论 MEF2A基因11号外显子CAG重复序列多态性和重庆地区汉族人群中冠心病的风险无明显相关性。
Objective To investigate the relationship between CAG repeat polymorphism of exon 11 of MEF2A gene and susceptibility to coronary heart disease in Han population of Chongqing. Methods The exon 11 of MEF2A gene in 232 patients with coronary heart disease and 240 control subjects was amplified by PCR and sequenced directly by DNA to detect CAG repeat polymorphisms and analyzed with clinical data. Results There was no 21 base pair deletion mutation in exon 11 of MEF2A gene. There was polymorphism in the CAG repeat of exon 11 of MEF2A gene. There was no significant difference in allele frequency distribution between the two groups (P> 0.05). There was no significant correlation between CAG repeat polymorphism and coronary heart disease (P> 0.05). Conclusion There is no significant correlation between CAG repeat polymorphism of MEF2A exon 11 and coronary heart disease in Han population in Chongqing.