目的通过对布加综合征(Budd-Chiari Syndrome,BCS)患者手术切除的病变组织标本进行分子病理学研究,寻求因子V在病变组织标本的突变几率,最终确定因子V Leiden突变(FVL)与本地区BCS的病因学关系。方法收集上述切取的病变组织作为实验组研究标本,共26例;另取切除的大隐静脉主干共10例作为对照组。实验采用原位PCR技术,各标本的PCR产物经内切酶Mnl1酶切、电泳分析,确切概率法对各组FV突变情况进行统计学分析处理。结果直接观测对比无FV突变现象出现。统计学分析结果表明,实验组和对照组突变率差异无统计学意义(P=1)。结论本地区散发BCS病例下腔静脉隔膜和短段闭塞病变与因子VLeiden突变无密切相关性。 OBJECTIVE: To investigate the molecular pathological changes of surgical specimens of patients with Budd-Chiari Syndrome (BCS) and to find the mutation probability of factor V in the diseased tissue specimens. Finally, the V Leiden mutation (FVL) and Regional BCS etiology. Methods Tissue samples of the diseased tissue collected from the above study were collected from 26 cases of the experimental group and 10 cases of resected saphenous vein as the control group. In situ PCR was used in the experiment. The PCR products of each specimen were digested with endonuclease Mnl1 and analyzed by electrophoresis. The exact mutation method was used to analyze the mutation status of FV in each group. The results of direct observation of non-FV mutation occurred. Statistical analysis showed that there was no significant difference in the mutation rate between the experimental group and the control group (P = 1). Conclusion There is no close correlation between the ventricular septal defect and short segment occlusion of the BCS cases and the factor VLeiden mutation.