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目的 了解脂蛋白脂酶 (lipoprotein lipase,L PL)基因 Pvu 位点多态性在人群中的分布情况及其与高脂血症的关系。方法 选取北京市西城区 179例高脂血症患者作为病例组 ,同时选择 136名血脂正常者作为对照组 ,对所有对象均进行血脂谱项目测定及 L PL- Pvu 位点多态性检测 (聚合酶链反应 -限制性片段长度多态性方法 )。结果 L PL 基因 Pvu 位点 (+/ +)、(+/ - )及 (- / - )基因型的构成比分别为4 0 .3% ,4 7.9%和 11.7% ,(- )等位基因的频率分别为 35 .7% ;高胆固醇血症及高甘油三酯血症 (- )等位基因携带者的构成比明显低于对照组 (P<0 .0 5 ) ;且 (- )等位基因携带者 TG水平低于 (+)等位基因携带者(P>0 .0 5 )。结论 L PL基因 Pvu 位点基因多态性与中老年人群高脂血症相关 ,(- )等位基因与胆固醇、甘油三酯水平降低有关。
Objective To investigate the distribution of Pvu locus polymorphism of lipoprotein lipase (LPL) gene in human population and its relationship with hyperlipidemia. Methods A total of 179 patients with hyperlipidemia in Xicheng District of Beijing were enrolled in this study. 136 normal subjects with lipids were selected as control group. All the subjects were tested for lipid profile and L PL-Pvu polymorphism Enzyme chain reaction - restriction fragment length polymorphism method). Results The percentages of Pvu loci (+ / +), (+/-) and (- / -) genotypes in LPL gene were 40.3%, 4.9% and 11.7% (P <0.05). The frequency of hypercholesterolemia and hypertriglyceridemia (-) allele was significantly lower than that of the control group (P <0.05) The level of TG in carriers of allele was lower than that in carriers of (+) allele (P> 0.05). Conclusion The polymorphism of Pvu locus in LPL gene is associated with hyperlipidemia in middle-aged and elderly people. The allele of (-) is related to the decrease of cholesterol and triglyceride.