目的 :探讨国人布 -加综合征 (BCS)与凝血第 因子 L eiden(F L)突变的相关性。方法 :收集 2 9例国人BCS(其中 2 5例为散发 BCS、4例为家族性 BCS)和 2 9名健康对照者 ,并对其血样进行 PCR- RFL P的 F L 突变分析。结果 :2 9例 BCS中 ,共有 3例 F L 突变阳性 ,均为家族性 BCS病例。其中家系 A姐妹均有 F L 突变 ,家系 B妹妹突变阳性 ,均为杂合性突变。散发病例无 1例阳性。对照组无 1例阳性。 2 9例国人 BCS中 ,F L 突变频率为0 .0 5 17,而 4例家族性 BCS的 F L 突变频率则为 0 .375 0。2 9例 BCS病例组与 2 9例对照组间 F L 突变频率无统计学差别 ,但家族性 BCS病例组与对照组间 F L 突变频率有显著统计学差别。结论 :国人家族性 BCS与 F L 突变相关 ,国人散发性 BCS与 F L 突变无关 Objective: To investigate the correlation between Chinese Budd-Chiari syndrome (BCS) and coagulation factor L eiden (F L) mutation. Methods: Twenty-nine Chinese BCS patients (25 of whom were BCS and 4 of whom were familial BCS) and 29 healthy controls were enrolled in this study. F L mutation analysis of PCR-RFL P was performed on their blood samples. RESULTS: Of the 29 BCS cases, 3 were positive for F L mutations, all of whom were familial cases of BCS. Which family A sisters have F L mutations, family B sister mutation positive, are heterozygous mutations. No cases of sporadic positive cases. No one in the control group was positive. The frequency of FL mutation was 0. 0517 in BCS of 29 Chinese and the frequency of FL mutation in 4 familial BCS was 0.375 0.2 FL mutation frequency between 9 BCS cases and 29 control cases There was no statistical difference, but there was a significant difference in the frequency of FL mutation between familial BCS cases and controls. Conclusion: Familial BCS is associated with F L mutation in Chinese people, but sporadic BCS is not associated with F L mutation in Chinese