ABSTRACT
Objective:Our aim was to study the relationship between factor v Leiden (FⅤL) mutation and Chinese Budd-Chiari syndrome (BCS). Methods:Twenty-nine BCS patients (25 patients with sporadic BCS,4 with familial BCS ),29 healthy persons were detected for FⅤL mutation with PCR-RFLP.Results: FⅤL mutation was detected in 3 of 4 patients with familial BCS. Two patients in A family and one patient in B family had FⅤL mutation. The mutation was heterozygous. The mutation frequency was 0.0517 in 29 pationts with BCS, 0.3750 in 4 with familial BCS.The frequency of FⅤL mutation in patients and healthy persons showed no statistical difference,but frequency of FⅤL mutation between patients with familial BCS and healthy persons showed significant difference.Conclusion:The FⅤL mutation was related to Chinese familial BCS, but not related to Chinese BCS.