肾素基因单核苷酸多态与心肌梗死的关系

目的 检测中国人群中肾素基因的单核苷酸多态（SNPs）及其分布，探讨其与中国华东地区汉族人群心肌梗死的关系。方法PCR一直接测序技术检测24份取自中国不同民族人群的DNA样本，筛查肾素基因启动子区、编码区和外显子-内含子连接区，明确SNPs及其分布；应用PCR-直接测序和SnaPshot法对所发现的SNPs进行基因分型。选择380份无血缘关系的中国华东地区汉族人群（195例心肌梗死和185例健康对照）DNA样本，进行肾素基因候选SNPs的病例一对照关联分析和单倍型分析。结果所检测的5247bp肾素基因序列中共发现8个SNPs，其基因型和等位基因频率分布，在对照组和心肌梗死组间无统计学差异（P〉0．05）；单倍型分析显示启动子区域单倍型频率分布，在两组人群间无显著性差异（P〉0．05）。结论肾素基因可能不是中国华东地区汉族人群心肌梗死发病的易感基因。

Single Nucleotide Polymorphisms of Renin Gene and its Correlation with Myocardial Infarction

Objective To investigate the distribution of single nucleotide polymorphisms (SNPs) of renin gene in Chinese population, and further ascertain their relation with myocardial infarction in the south-eastern Han people. Methods SNPs detectionwas performed by PCR-sequencing in 24 samples with different nationalities in China. Genotypes were determined by PCR-sequencing and ABI PRISM SnaPshot multiplex kit in 380 south-eastern Han people (185 healthy controls and 195 myocardial infarction patients). Results Eight SNPs were discovered in the length of 5 247 bp. No statistical differences of genotype distributions and allele frequencies were found between myocardial infarction group and normal references (P>0.05). Haplotype analysis revealed that there was lack of significant association between haplotype distribution and myocardial infarction (P>0.05). Conclusion Renin gene may not increase the risk for myocardial infraction in the south-eastern Han population.