中国汉族深静脉血栓形成患者与组织因子途径抑制物基因多态性的关系

目的探讨组织因子途径抑制物(TFPI)基因变异与中国汉族深静脉血栓形成(DVT)患者的相关性。方法采用聚合酶链反应单链构象多态性分析及DNA测序,对62例DVT患者和50例正常汉族人进行TFPI基因序列分析。结果8号内含子中发现一个C/T多态位点,等位基因频率为86.6%和13.4%,病例组与对照组比较无统计学差异;5号内含子41位发现一个单碱基“G”插入,病例组中有4例(6.5%)与对照组比较差异无统计学意义(P>0.05)。结论TFPI基因可能不是中国汉族人DVT的主易感基因;5号内含子中单核苷酸“G”插入有深入研究价值。

Tissue factor pathway inhibitor gene polymorphism in patients with deep vein thrombosis and normal blood donors in Chinese Han

Objective To investigate tissue factor pathway inhibitor (TFPI) gene polymorphism and its relationship with deep vein thrombosis (DVT) in Chinese Han.Methods The sequences of exons 3-9 and their 5' and 3' flanking intronic regions in TFPI were detected by PCR-single strand conformation polymorphism and sequencing in 62 cases of DVT and 50 nonthrombosis normal individuals in Chinese Han.Results Two novel variants were identified:single nucleotide insertion mutation (G41) in intron 5 and single nucleotide substitution (C/T) located 32 base pairs upstream of exon 8 in intron 8.The C/T dimorphism had allele frequency of 86.6% and 13.4% respectively,which was the same in the group of patients and normal individuals.Four cases of 62 patients (6.5%) carried the 41 ins G mutation,and none of 50 normal individuals did.There was no significant difference between the control group and DVT group.Conclusion TFPI gene may not be a major susceptibility gene of DVT in Chinese Han.Further investigations would be necessary to define accurately its implications of the mutation G41 in intron 5.