脂蛋白脂酶基因多态性与冠心病和血脂水平的关系

The Relationship between LpL Gene Polymorphism and Plasma Lipids in CHD Patients

目的:探讨脂蛋白脂酶LpL基因的限制性内切酶片段长度多态性与冠心病和血脂水平的关系。方法:选择181例冠心病(CHD)患者和100例与其年龄,性别相匹配的健康(对照)组进行研究,分别测定其有关血脂指标。并用PCR法扩增其染色体DNA中含第6内含子和第8内含子的不同片段,分别用限制性内切酶Pvu Ⅱ和Hind Ⅲ消化扩增产物,经琼脂糖电泳后,拍照并确定其基因型。结果:两组间P等位基因和H等位基因频率均无显著性差异。冠心病组的H基因型和P基因型与TG含量有关。其H^+H^+,H^+H^-和H^-H^-各基因型的TG含量分别为(2.31±1.60)、(1.59±0.89)和(1.46±0.43)mmol/L。P^+P^+,P^+P^-和P^-P^-各基因型的TG含量分别为(2.18±1.00)、(1.78±0.79)和(1.50±0.59)mmol/L(P<0.01)。二者均有一定的基因型剂量依赖关系。对照组基因型与TG含量无关。将全部研究对象以2.29 mmol/L为临界值分为低TG组和高TG组后,H^+等位基因在两组中分别为0.89和0.76(P<0.01)。P^+等位基因的分布在两组中差异没有显著性(P>0.25)。结论:天津地区脂蛋白脂酶Hind Ⅲ和Pvu Ⅱ基因多态位点以H^+和P^+为主,其等位基因频率分别为0.78和0.68。CHD的患者H^+基因型和P^+基因型对血浆TG含量有基因型剂量依赖关系。H^+等位基因在其它因素的参与下与血浆高TG水平的出?

Objective: To investigate the relationship between lipoprotein lipase gene Pvu Ⅱ and Hind Ⅲ restriction fragment length polymorphisms in intron 6,8 and plasma lipid levels and coronary heart diseases. Methods: the plasma lipids(such as T-CH,TG,HDL-CH etc)were measured on 181 patients with CHD and 100 healthy controls. Their genotypes for PvuⅡand HindⅢ were determined by digesting PCR amplyfied DNA products. Results: There was no significant difference for the distribution of PvuⅡand Hind Ⅲ alleles between patients and control. In CHD groups, the TG levels for H+ H+ ,H+ H-,H- H-- were 2.31±?1.60,1.59± ?0.89,1.46± ?0.43 mmol/L. The TG levels of P+ P+ ,P+ P- and P- P- were 2.18 ±?1.00,1.78 ± 0.79,1.59 ±0.59 mmol/L respectively. There was some gene-dose relationship for the two genes ( P < 0.01).The high distribution of alleles was observed in the high TG groups(0.89 vs 0.76 P<0.01).Conclusion:the main alleles of Hind Ⅲ and Pvu Ⅱ in Tianjin area were H+ and P+ . Their alleles gene frequencies were 0.78 and 0.68. The TG level of CHD patients was affected by H+ and P+ genotypes. H+ allele was associated with high TG levels.