胆固醇结石病人低密度脂蛋白受体基因的多态性  

Polymorphism at the LDL receptor gene locus in patients with cholesterol gallstone disease

作　　者：奉典旭[1,2] 韩天权[1,2] 陈胜[1,2] 杨一增[1,2] 蒋渝[1,2] 张圣道[1,2] 胡海[1,2] 姜湘范 

机构地区：[1]上海第二医科大学瑞金医院外科 [2]江苏省张家港市胆石病治疗中心

出　　处：《中华医学杂志》1998年第1期63-65,共3页National Medical Journal of China

摘　　要：目的探讨低密度脂蛋白（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，分析该多态位点在１３１例胆囊结石病人和７９例对照者中的分布，并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。Objective 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 techinque.Results Analysis of allele frenquencies in 131 unrelated Chinese 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 genotypes were significantly higher in the patients with cholesterol gallstones than in the controls respectively ( P <0.05, P <0.05)。 Conclusion The present study suggests that the LDL receptor gene polymorphism may be associated with cholesterol gallstone disease

关 键 词：胆结石 低密度脂蛋白 受体 基因多态性 

分 类 号：R575.62[医药卫生—消化系统]