载脂蛋白B四核苷酸串联重复序列基因多态性与冠心病的关联性研究

Study on the relationship between the gene polymorphism of apolipoprotein B (TTTA)n and coronary heart disease

目的 :探讨载脂蛋白B四核苷酸串联重复序列 [(TTTA)n]基因多态性与冠心病 (CHD)的关联。方法 :采用聚合酶链反应 变性聚丙烯胺凝胶高压电泳结合银染技术检测 4 7例CHD患者及 2 0 1例健康人群载脂蛋白B (TTTA)n基因型和等位基因 ,并对患者和健康人群的该基因位点 12 .8等位基因进行序列分析 ,以证实基因型结果判断的准确性 ,同时检测血脂。结果 :CHD组载脂蛋白B(TTTA)n 12 .8/ 13.8基因型和 12 .8等位基因频率及血清甘油三酯、总胆固醇、低密度脂蛋白胆固醇、脂蛋白 (a)水平均明显高于对照组 (P <0 .0 1,<0 .0 5 ,<0 .0 1) ,高密度脂蛋白胆固醇明显低于对照组 (P <0 .0 1)。结论 :载脂蛋白B (TTTA)n 12 .8/ 13.8基因型的人群CHD易感性增高 ,12 .8等位基因可能为CHD的易感基因。

Objective:To explore the relationship between the Gene Polymorphism of apolipoprotein B tetranucleotide tandem repeats (TTTA)n and coronary heart disease (CHD).Methods:The genotypes and alleles of apolipoprotein B (TTTA)n were established by using polymerase chain reaction high voltage polyacrylamide gel electrophoresis in 47 cases with CHD and 201 healthy controls. The allele 12.8 was sequenced so as to testify the genotyping, meanwhile, their serum lipid levels were assayed.Results:Compared with controls, CHD group had higher frequencies of a genotype with 12.8 / 13.8 and an allele with 12.8 of the locus.The serum TG, TC, LDL C and Lp(a) of CHD group were higher than those of controls (P< 0.01 < 0.05 ,< 0.01 ), while the level of HDL C was opposite (P< 0.01 ).Conclusion:The 12.8 / 13.8 genotype of the locus in apolipoprotein B increases susceptibility to CHD and the 12.8 allele may be a susceptible gene of CHD in Chinese population.