正常人LDL受体基因PvuⅡ多态性与血脂水平的关系探讨

A Study on the Association of Pvu Ⅱ Polymorphism of LDL Receptor Gene with Serum Lipid Levels in Normal Subjects

用限制性内切酶PvuⅡ研究了115名血脂正常者低密度脂蛋白(LDL)受体基因的多态性。结果显示存在P_1和P_2两种等位基因,构成P_1P_1、P_1P_2和P_2P_2三种基因型。其间的血清胆固醇(TC)水平存在明显差异,提示LDL受体座位的多态性可能与正常人群中TC水平的差异有关。与国外资料比较,我国的P_1等位基因相对频率较高,而P_2则较低,表明LDL受体基因的多态性存在地区和民族差异。

Polymorphisms of LDL receptor gene were investigated with restriction en- zyme PvuII in 115 normolipidemic subjects.The results showed that there were two alleles in this locus,named P1 and P2,which made up three genetypes:P1P1,P1P2 and P2P2. Significant differences in serum cholesterol levels among these genetypes were observed, suggesting that polymorphism of LDL receptor gene locus might contribute to the variation in TC levels of normolipidemic population.The relative frequency of P1 allele in Chinese was higher as compared with that in foreigners,while that of P2 allele was lower.Taken togeth- er,all these differences reflected the existence of ethnic and geographic differences in poly- morphisms of LDL receptor gene.