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目的 探讨脂蛋白脂酶 (LPL)基因Ser447Ter变异是否影响血脂水平。方法 2 52例受试者 ,其中 1 32例冠心病患者及 1 2 0例非冠心病者。采用聚合酶链式反应 限制性片段多态性方法检测LPL基因多态性。结果 LPL基因Ser447Ter突变杂合子 (CG型携带者 )和纯合子 (GG型携带者 )血甘油三酯浓度 [(1 1 7± 0 55)mmol L]低于无Ser447Ter突变者 [CC型携带者 ,(1 64± 1 1 1 )mmol L] ,P<0 0 1 ;前者高密度脂蛋白 胆固醇水平 [(1 2 4± 0 2 7)mmol L]高于后者 [(1 1 3± 0 2 7)mmol L] ,P <0 0 5 ;这种效应女性携带者更为明显。但是 ,男女两性Ser447Ter各基因型的比例相近。结论 LPLSer447Ter突变可影响血脂水平 ,且存在男女性别差异 ,各LPL基因型的分布无性别差异
Objective To investigate whether Ser447Ter mutation of lipoprotein lipase (LPL) affects blood lipid levels. Method 2 Fifty-two subjects, including 132 patients with coronary heart disease and 120 patients with non-coronary heart disease. Polymerase chain reaction restriction fragment polymorphism was used to detect LPL gene polymorphism. Results Serum triglyceride concentrations of Ser447Ter mutant heterozygotes (CG carriers) and homozygotes (GG carriers) of LPL gene [(1 1 7 ± 0 55) mmol L] were lower than those without Ser447Ter mutation [CC carriers , (1 64 ± 1 1 1) mmol L], P <0.01; the former high-density lipoprotein cholesterol level [(12 4 ± 0 2 7) mmol L] was higher than the latter [(1 1 3 ± 0 2 7) mmol L], P <0 0 5; this effect is more obvious in female carriers. However, the proportions of genotypes of Ser447Ter between men and women were similar. Conclusion LPLSer447Ter mutation can affect the level of blood lipids, and there are gender differences in sex, genotype distribution of each LPL no sex difference