布-加综合征患者FVLeiden、FⅡG20210A突变检测

FVLeiden and FⅡG20210A mutations in patients with Budd-Chiari syndrome

中图分类号R654.3摘要目的:探讨凝血因子FVLeiden和FⅡG20210A基因多态性与布加综合征(BCS)发病的相关关系。方法:利用多重聚合酶链反应和限制性片段长度多态性(MultiplexPCR-RFLP)方法,检测了53例布加综合征患者与106例正常对照的FVLeiden和FⅡG20210A的突变情况,并加以对照分析。结果:53例B-CS患者与106例正常对照FVLeiden和FⅡG20210A基因多态,均为野生型,未发现纯合突变型与杂合突变型。结论:FVLeiden和FⅡG20210A的分布存在着地理差异与种族异质性,在中国人BCS形成过程中的作用极小。

Aim: To study whether FVLeiden and FⅡG20210A mutations take part in the pathogenesis of Budd-Chiari syndrome (B-CS). Methods: FVLeiden and F Ⅱ G20210A mutations were detected by using PCR-RFLP in 53 patients with B-CS and 106 controls. Results:The genotypes of FVLeiden and F Ⅱ G20210A in 53 B-CS patients and 106 controls were all wild types. Conclusion: There are different geographical and ethnic distributions of FVLeiden and F Ⅱ G20210A. It suggestes that these gene variant might not be a useful candidate allele for further study of B-CS in China.