脂蛋白脂酶基因PvuⅡ酶切位点多态性与高脂血症的关系

DNA polymorphism of pvuII sites in the lipoprotein lipase gene in patients with hyperlipoidemia

目的探讨脂蛋白脂酶基因第6内含子PvuⅡ酶切位点多态性与高脂血症发生之间的关联性。方法采用聚合酶链反应及限制性片段长度多态性方法对辽宁大连地区144例高脂血症患者及173例血脂正常者脂蛋白脂酶基因PvuⅡ酶切位点多态性及其与血脂、载脂蛋白水平的关联进行对照研究。结果高脂血症组P+等位基因频率较对照组增加(0.79vs0.64,P<0.01);而P-等位基因频率则明显低于对照组(0.21vs0.36,P<0.01)。高脂血症组P+P+基因型者血浆甘油三酯水平明显高于P+P-和P-P-(P<0.01);血浆总胆固醇水平、LDL也高于P+P-和P-P-(P<0.05),而HDL-C水平则降低。结论脂蛋白脂酶基因内含子PvuⅡ酶切位点多态性与高脂血症有一定关联。

Objective To investigate the fiequeney of variant of lipoprotein lipase （LPL） gene,PvuⅡ at intron 6, and its relation to hyperlipoidemia.Methods PCR-RFLP method was used to determine the DNA polymorphism of 6th intro, at LPL gene in 144 hyperlipoidemia patients and 173 controls.Results The P＋ allelie frequency of hyperlipoidemia group was higher than that of control group （0.79 vs 0.64,P〈0.01）.But the P- allelie frequency of hyperlipoidemia group was significantly lower （0.21 vs 0.36,P〈0.01）.The plasma triglycerides （TG） level of P＋P＋ genotype was significantly higher than that of P＋P- and P-P-genotypes （P〈0.01）in hyperlipoidemia group; the plasma TC level and TG, LDL-C ratio were higher than those of P＋P- and P-P- genotypes （P〈0.05）, while the HDL-C was lower.Conclusion The LPL- PvuⅡ -RFLP is significantly associated with hyperlipoidemia.