Relations of Budd-Chiari syndrome to prothrombin gene mutation

作     者：Guo-Ling Lin, Pei-Qin Xu, Hua Qi, Jian-Hua Lian, Hong Zheng and Xiao-Wei Dang Zhengzhou, ChinaDepartment of General Surgery, First Affiliated Hospi- tal of Zhengzhou University the Faculty of Cytobiology and Medical Genetics, Medical School, Zhengzhou Univer- sity , Zhengzhou 450052, China 

作者机构：Department of General Surgery First Affiliated Hospital of Zhengzhou University Zhengzhou 450052 China. 

出 版 物：《Hepatobiliary & Pancreatic Diseases International》 (国际肝胆胰疾病杂志（英文版）)

年 卷 期：2004年第3卷第2期

页      面：214-218页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：This study was partly supported by a grant from the Science and TechnologyKey Project of Henan Province  China ( No. 0224630176 ) 

主　　题：hepatic vein thrombosis etiology F G20210A gene mutation 

摘      要：BACKGROUND: Budd-Chiari syndrome (BCS) is a type of disease characterized by portal hypertension and/or hy- pertension of the inferior vena cava (IVC) due to the ob- struction of the hepatic veins (HV) and/or intrahepatic IVC outlet. Being etiologically complicated and obscure, BCS can be acquired or idiopathic and several gene muta- tions may be contributable. This study was to explore whether prothrombin gene mutation (F G20210A) takes part in the pathogenesis of BCS and to investigate their cor- relativity. METHODS: In 38 proven BCS patients and 70 controls, polymerase chain reaction-restriction fragment length poly- morphism (PCR-RFLP) was used to find F G20210A mutation. To detect whether there are any mutations, four steps were taken: purification of genome DNA from whole blood, amplification of special fragment by polymerase chain reaction, digestion of the fragment via restriction en- donuclease, and analysis of results by polyacrylamide gel electrophoresis. RESULTS: F G20210A mutation was not detected in all patients and controls. CONCLUSIONS: No F G20210A mutation exists in Chi- nese patients with BCS, nor correlativity between the oc- currence of BCS and F G20210A mutation. The etiology of BCS in the Chinese needs further investigation.