低密度脂蛋白受体基因多态性与胆固醇结石关系

探讨低密度脂蛋白(LDL)受体基因第18外显子(dTA)n多态位点与胆固醇结石病的关系。方法:应用聚合酶链反应(PCR)扩增该多态位点,对扩增产物进行变性聚丙烯酰胺凝胶电泳分离,银染法显色分析。结果:分析该多态位点在131例胆囊结石病人和79例对照者的分布,发现:(1)胆固醇结石组的C等位基因出现频率为0.40,显著高于对照组的0.27(P<0.01);(2)胆固醇结石组BB基因型的分布频率为0.01,显著低于对照组的0.13(P<0.005),而CC、BC型则明显高于对照组(P<0.05)。结论:LDL受体基因第18外显子(dTA)n多态位点的改变可能与胆固醇结石病的发生有关。

Polymorphism at the LDL Receptor Gene Locus in Patients with Cholesterol Gallstone Disease

Aims:To investigate the association between the dinucleotide repeat polymorphism at the 3'end of the LDL receptor gene and cholesterol gallstone disease. Methods: Polymorphism of the(dTA)n was amplified by using polymerase chain reaction, and the alleles identification was performed with denaturing polyacrylamide gel electrophoresis and silver stain technique. Results: Analysis of allele frequencies in 131 gallstone patients and 79 controls indicated that the C allele was more frequent in the patients with cholesterol gallstones than that in the controls(0.40 vs 0.27, P< 0.01), and the frequency of the BB genotype of the LDL receptor gene was markedly lower(P< 0.005), while the CC and BC genotype were significantly higher in the patients with cholesterol gallstones than in the controls respectively(P<0.05, P<0.05). Conclusions: The present study suggests that the LDL receptor gene polymorphism may be associated with cholesterol gallstone disease.