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目的 检测纤溶酶原激活物抑制剂 -1(plasminogen activator inhibitor-1;PAI-1)基因编码区多态性 ,并探讨其与冠心病的关系。方法 使用变性高效液相色谱 (denaturing high performance liquidchromatography,DHPL C)技术和 DNA序列测定方法检测了 93例冠心病 (coronary artery disease,CAD)患者和 12 3名正常对照者的基因组 DNA。结果 在 PAI-1基因第 2外显子中发现了两个单核苷酸多态性位点 (G43 A和 G49A)均为鸟嘌呤 (G)→腺嘌呤 (A)突变 ,引起肽链上第 15位丙氨酸变成苏氨酸(Ala15Thr)和第 17位的缬氨酸变成异亮氨酸 (Val17Ile) ,在所有对象中只发现了杂合型和纯合野生基因型携带者。分别分析了两个位点基因型与冠心病和 PAI-1基因水平的关系。与冠心病组比较 ,对照组中具有更多的杂合基因型携带者 ,但差异无显著性。其不同基因型与 PAI-1抗原水平没有明显相关性。结论 用 DHPL C技术检测了 PAI-1基因两个多态性位点 ,此多态性与冠心病发病没有相关性
Objective To detect the polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene and explore its relationship with coronary heart disease. Methods The genomic DNA of 93 patients with coronary artery disease (CAD) and 123 normal controls were detected by denaturing high performance liquid chromatography (DHPL C) and DNA sequencing. Results Two single nucleotide polymorphisms (G43 A and G49A) were found in exon 2 of PAI-1 gene, all of which were caused by the mutation of guanine (G) → adenine (A) 15th Ala to Thr (Ala15Thr) and 17th Val to isoleucine (Val17Ile), only heterozygous and homozygous wild-type carriers were found in all subjects . The relationship between the genotypes of two loci and the levels of PAI-1 and CHD was analyzed respectively. Compared with coronary heart disease group, the control group had more heterozygous genotype carriers, but the difference was not significant. There was no significant correlation between the different genotypes and PAI-1 antigen level. Conclusions The two polymorphic sites of PAI-1 gene were detected by DHPL C technique. This polymorphism was not associated with the incidence of coronary heart disease