Roelse J C, Koopman M M, Büller H R, ten Cate J W, Montaruli B, van Mourik J A, Voorbert J
Department of Blood Coagulation, Central Laboratory of the Netherlands, Amsterdam.
Br J Haematol. 1996 Mar;92(3):740-3. doi: 10.1046/j.1365-2141.1996.349885.x.
Resistance to activated protein C (APC), caused by a mutation at amino acid position Arg506 of the factor V gene, has recently been identified as the most prevalent genetic defect associated with venous thrombosis. Similarly to factor V, mutations at the cleavage sites of factor VIII for APC may occur in patients with venous thrombosis. Here we have analysed 125 consecutive patients with incidental or recurrent venous thromboembolism for the presence of mutations at the cleavage sites for APC at amino acid positions Arg336 and Arg562 of factor VIII. Our findings indicate that mutations at these amino acid positions of factor VIII do not occur in the patient group analysed.
由因子V基因第506位氨基酸突变引起的对活化蛋白C（APC）的抵抗，最近被确定为与静脉血栓形成相关的最常见遗传缺陷。与因子V类似，静脉血栓形成患者中可能会出现因子VIII的APC裂解位点突变。在此，我们分析了125例连续的偶发性或复发性静脉血栓栓塞患者，以检测因子VIII第336位和第562位氨基酸的APC裂解位点是否存在突变。我们的研究结果表明，在分析的患者组中未出现因子VIII这些氨基酸位置的突变。
