凝血因子VII活性与多态性关系的研究

目的　探讨凝血因子VII(FVII)活性与其多态性的关系。方法　运用PCR DGGE筛查12 0例冠心病 (CHD)和心肌梗死 (MI)患者和 12 3例健康人作对照者的FVII基因 ,以一期法检测研究对象FVII活性 ,分析比较患者与对照者的FVII活性及其遗传因素之间关系。结果　发现FVII基因 3种多态性 :5′端 4 0 0处G→A ,5′端 3 2 3处 10bp插入 /缺失多态性 ,8号外显子Arg3 5 3Gln(等位基因M1/M2 )。Arg3 5 3Gln多态性与FVII活性显著相关 (P <0 0 5 ) ,等位基因M2与低FVII活性有关。结论　Arg3 5 3Gln多态性是影响FVII活性的重要标志。

Analysisof the relationship between FVII activity and the polymorphism

Objective　To investigate the relationshipbetween coagulation factor VII( FVII) activity and polymorphism. Methods　Denaturing gradient gelelectrophoresis technique was used to study FVII gene variation and plasma FVII activitywas measured by a one-stage assay in 120 cases with CHD and 123 normal controls. Result　A novel G→A polymorphism was found in the promoter region atposition-400 bp from the start of translation. An insertion/deletion polymorphism of 10 bpin the promoter region (-323) and Arg353Gln polymorphism in exon 8 were also found. Thelatter was found to be associated with FVII activity. Conclusion　Arg353Gln polymorphism reducesFVII activity and may be an important marker in effecting FVII activity level.