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探讨脂蛋白脂酶基因的多态性与冠心病的相关性。方法 提取冠心病群体和正常群体的基因组DNA ,借助聚合酶链反应扩增LPL基因的 9个外显子及其侧翼的内含子序列 ,采用变性高效液相色谱技术对扩增的片段进行了筛查 ,并用双脱氧末端终止法对扩增的片段进行了DNA序列检测。结果 在LPL基因第 5外显子发现了一未见文献报道的多态位点 ,即G830→A转换 ,该变异导致LPL基因第 192位的Arg(CGA)被Gln(CAA)取代。经χ2检验 ,由此多态产生的基因型A/A和等位基因A在对照组和冠心病组之间没有显著性差异 (P >0 0 5 )。对冠心病患者组进一步采用 χ2检验 ,发现A/A基因型和A等位基因在合并有高甘油三酯 /低高密度脂蛋白胆固醇血症的患者组和血脂正常的患者组之间存在显著性差异 (P <0 0 5 )。结论 首次发现了LPL基因G830A的多态性 ,该多态性 (Arg192Gln)可能影响LPL的酶活性 ,导致高甘油三酯 /低高密度脂蛋白胆固醇血症。该发现可能为探讨冠心病发病的分子机理有重要价值。
To investigate the association between lipoprotein lipase gene polymorphisms and coronary heart disease. Methods The genomic DNA of coronary heart disease (CHD) and normal population was extracted. Nine exons of LPL gene and its flanking intron were amplified by polymerase chain reaction (PCR) and the amplified fragments were analyzed by denaturing high performance liquid chromatography The DNA fragment was detected by dideoxy terminator method. As a result, an unrecovered polymorphism site was found in exon 5 of LPL gene, ie, the G830 → A transition, which led to the substitution of Gln (CAA) with Arg (CGA) at position 192 of LPL gene. By χ2 test, the genotype A / A and allele A produced by this polymorphism had no significant difference between control group and coronary heart disease group (P> 0.05). Chi-square test was further used in patients with coronary heart disease and there was significant difference between A / A genotype and A allele in patients with high triglyceride / low HDL cholesterol and patients with normal blood lipids Sex differences (P <0 05). Conclusions The polymorphism of LPL gene G830A was found for the first time. This polymorphism (Arg192Gln) may affect the enzyme activity of LPL, leading to hypertriglyceridemia / low HDL cholesterol hyperlipidemia. This finding may have important value in exploring the molecular mechanism of coronary heart disease.