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肝脂酶 (hepaticlipase ,HL)对血浆脂蛋白的代谢起重要作用 ,它影响着血浆中高密度脂蛋白 (HDL)的水平以及低密度脂蛋白 (LDL)的种类 ,因此肝脂酶的活性与冠心病的发生具有相关性。肝脂酶基因的单核苷酸多态性 (SNP)与酶的活性相关 ,并影响血浆脂蛋白水平以及冠心病的发生。目前对肝脂酶基因多态性的研究多集中于启动子区。对该基因编码区的单核苷酸多态性与中国汉族冠心病的相关性进行研究。采用聚合酶链反应、变性高效液相色谱及DNA测序等技术对 10 2例经冠状动脉造影确诊的冠心病患者和 84例正常对照的肝脂酶基因编码区 (包括所有外显子及其侧翼序列 )的SNP进行了研究 ,结果在肝脂酶基因第 6外显子发现了一未见报道的多态位点 ,即A+884 →G转换 ,该碱基变异导致肝脂酶第 2 76位Lys被Arg取代。经检验 ,对照组和病例组基因型频率的分布符合Hardy Weinberg平衡。冠心病患者组中G+884 等位基因的携带者 (基因型为AG或GG)显著高于对照组 ( 5 4 .9%vs.4 1.5 % ,χ2 =6 .16 4 ,df=2 ,P =0 .0 4 6 ) ,且冠心病组中G+884 等位基因的频率显著高于对照组 ( 31.4 %vs .2 1.3% ,χ2 =4 .6 5 2 ,df=1,P =0 .0 31)。在肝脂酶基因启动子区发现了一个新的多态位点T- 2 →C ,该多态位点与冠心病的发生以及血浆高密度脂?
Hepatic lipase (HL) plays an important role in the metabolism of plasma lipoproteins. It affects the level of high density lipoprotein (HDL) in plasma and the type of low density lipoprotein (LDL). Therefore, The incidence of heart disease is related. Single nucleotide polymorphisms (SNPs) in hepatic lipase genes are associated with enzyme activity and affect plasma lipoprotein levels and the occurrence of coronary heart disease. At present, the research on hepatic lipase gene polymorphism mostly focuses on the promoter region. The gene coding region of single nucleotide polymorphisms and coronary heart disease in China were studied. Polymerase chain reaction, denaturing high performance liquid chromatography and DNA sequencing were used to analyze the coding region of hepatic lipase gene (including all exons and their flanks) in 102 patients with coronary artery disease confirmed by coronary angiography and 84 normal controls Sequence) of the SNP was studied, the results of hepatic lipase gene exon 6 found an unreported polymorphic site, that A +884 → G conversion, the base mutation led to hepatic lipase 2 76 The Lys position is replaced by Arg. After testing, the control group and case group genotype frequency distribution in line with the Hardy Weinberg equilibrium. The carriers of G + 884 allele (genotype AG or GG) in patients with coronary heart disease were significantly higher than those in controls (54.9% vs.4 1.5%, χ2 = 6.146, df = 2, P = 0.046). The frequency of G + 884 allele in CHD group was significantly higher than that in control group (31.4% vs. 2.3%, χ2 = 4.652, df = 1, P = 0 .0 31). In the liver lipase gene promoter region found a new polymorphic site T- 2 → C, the polymorphic site and the occurrence of coronary heart disease and plasma high-density lipid?