FV_(Leiden)和FⅡ G20210A与中国汉族深静脉血栓形成的相关性

Association Between FVLeiden and FII G20210A Variants with Deep Vein Thrombosis in Chinese Han Population

目的 探讨FV_(Leiden)及FⅡG20210A与中国汉族深静脉血栓形成(DVT)的相关性。方法 采用PCR—单链构象多态性分析、PCH—限制性片段长度多态性分析及DNA测序技术,对经过筛选的62例汉族DVT患者和50例非血栓病正常汉族人进行FV_(Leiden)及FⅡG20210A分析。结果 112例研究对象中未发现FV_(Leiden)及FⅡG20210A变异。在FV基因1628位发现一单核苷酸多态性G/A,G与A等位基因频率分别为0.893和0.107。病例组与对照织无显著性差异,与高加索人比较有显著性差异(P<0.01)。结论 FV_(Leiden)及FⅡG20210A可能与中国汉族DVT无相关性,也不存在于正常汉族人。FV1628G/A属中性多态现象,具有种族差异性。

Objective To evaluate the association of FVLeiden and FII G20210A variants with deep vein thrombosis in Han Chinese. Methods The allelic types of FVLeiden and FII G20210A were detected by PCR -single strand conformation polymorphism, PCR/restriction fragment long polymorphism and sequencing in 62 patients with deep vein thrombosis and 50 nonthrombosis normal individuals as controls in Han Chinese. Results FVLeiden and FII G20210A variants were not detectable in any of the 112 subjects. However, a high allelic frequency of the FV1628G/A substitution was detectable. The G/A dimorphism had allele frequencies of 0. 893 and 0. 107 in 112 subjects, and was found to be similar in deep vein thrombosis patients and controls. However there was statistically significant difference between Chinese Han population and Caucasian populations . Conclusion FVLeiden and FII G20210A may not be the predisposing gene variant of deep vein thrombosis in Han Chinese. FV1628G/A dimorphism, with respect to deep vein thrombosis, is essentially neutral, and has a highly variable allelic frequency in different ethnic populations.