【摘要】 目的　探讨内皮型一氧化氮合酶 (eNOS)基因多态性与急性心肌梗死 (AMI)的相关性。方法　依据eNOS基因外显子 7G894T位点设计引物 ,通过巢式聚合酶链反应 (PCR)扩增目的片段 ,限制性内切酶消化目的片段 ,琼脂糖凝胶电泳 ,紫外透射分析仪检测 ,计数 10 7例AMI病人及 81例健康者基因型及突变基因频率 ,通过χ2 检验有无统计学意义。结果　eNOS基因外显子 7的 894位点有 3种基因型 :GG、GT、TT。AMI组 10 7例中2 5例发生G894T突变 ,纯合子TT 9例 ,杂合子GT 16例。对照组 81例中 13例发生G894T突变 ,均为杂合子。两组等位基因纯合子突变具有非常显著统计学意义 ,x2 =5 4 2 9,P <0 0 5 ,两组等位基因总突变率 (纯合子 +杂合子 )无明显统计学意义 ,x2 =1 5 2 9,P >0 0 5。结论　eNOS基因 894位点TT型突变与AMI发病密切相关 ,是AMI发病的危险因子更多还原

【Abstract】 Objective To investigate the association of the Glu298-Asp(894G→T)mutation at exon 7 of the endothelial nitric oxide synthase gene and acute myocardial infarction.Methods By using the designed primers based on flanking sequences of the Glu298-Asp mutation at exon7 of eNOS, 894G→T fragments were amplified by nested PCR from genomic DNA of healthy control and AMI subjects, digested by restriction enzyme after amplification and detected by agarose gel electrophoresis for 894G→T genotyping. To count the genotype and allele frequencies, the significance of difference in the genotype and allele between two groups were assessed by statistical analysis.Results Three genotypes containing GG, GT, TT were identified on the 894 site of the eNOS gene exon 7 in both AMI and controls. In AMI group, there were 25 patients having 9 homozygotes, the other 16 having heterozygotes. In controls, there were 13 cases with G894T mutation,all having heterozygotes. The mutation frequency of TT homozygote allele has extraordinary significant difference between two groups (P<0.01). Conclusion The mutation of G894T homozygote allele in eNOS gene is associated with AMI and might be a risk factor of the latter.更多还原