黏蛋白4基因Pst-Ⅰ位点多态性与原发性肝内胆管结石的关系  

Relationship between Pst-Ⅰ polymorphism of mucin 4 gene and primary hepatolithiasis

作　　者：李金海 朱明辉 徐雪珑 曾钰 张海峰 蒲青凡 Li Jinhai;Zhu Minghui;Xu Xuelong;Zeng Yu;Zhang Haifeng;Pu Qingfan(Department of Hepatobiliary Surgery,the Third Affiliated Hospital of Wenzhou Medical University,Wenzhou 325200,China)

机构地区：[1]温州医科大学附属第三医院肝胆外科,温州325200

出　　处：《中华肝胆外科杂志》2019年第6期448-451,共4页Chinese Journal of Hepatobiliary Surgery

基　　金：温州市科技局项目(Y20180658).

摘　　要：目的 探讨黏蛋白4(MUC4)基因Pst-Ⅰ位点多态性与国人原发性肝内胆管结石易感性的关系.方法 收集96例健康对照组和56例原发性肝内胆管结石患者的静脉血,提取DNA.应用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)技术和限制性内切酶技术对两组受试者MUC4基因Pst-Ⅰ位点进行聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)分析,并对两组患者的基因型频率和等位基因频率进行分析比较.结果 正常对照组中基因型GC、GT、TT频率分别为21.3%、12.7%、55.6%,等位基因C、T基因频率分别为21.5%、72.7%.原发性肝内胆管结石组中基因型GC、GT、TT频率分别为53.2%、41.2%、19.8%,等位基因C、T基因频率分别为66.3%、30.2%.两组患者基因型频率和等位基因频率差异有统计学意义(P<0.05).结论 MUC4基因Pst-Ⅰ基因多态性可能与原发性肝内胆管结石易感性存在相关性.Objective To investigate the relationship between Pst-Ⅰ polymorphism of mucin 4 gene and primary hepatolithiasis in the Chinese population.Methods Venous blood of 96 healthy controls and 56 patients with hepatolithiasis were collected,and DNA was extracted.Polymerase chain reaction combined with restriction enzyme (PCR-RFLP) digestion was used to detect Pst-Ⅰ polymorphism of mucin 4 gene in the two groups.The genotype and gene frequency between the two groups were then compared.Results The genotype frequencies of GC,GT,TT in the control and the hepatolithiasis groups were 21.3%,12.7%,55.6% and 53.2%,41.2%,19.8%,respectively.The alleles C and T gene frequencies in the control and the hepatolithiasis groups were 21.5%,72.7% and 66.3%,30.2%,respectively.There were significant differences in Pst-Ⅰ polymorphism of mucin 4 genotype frequency and gene frequency between the two groups.Conclusion The data showed Pst-Ⅰ polymorphism of mucin 4 gene was associated with primary hepatolithiasis in Chinese patients.

关 键 词：黏蛋白4 Pst-I多态性 肝内胆管结石 

分 类 号：R575.7[医药卫生—消化系统]