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首页> 外文期刊>Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis >Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency.
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Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency.

机译：杂合Arg506患者的血浆中凝血酶原激活片段1 + 2水平升高，导致因子V基因（APC抗性）和/或遗传性蛋白S缺乏症的Gln突变。

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摘要

Inherited resistance to activated protein C (APC-resistance), caused by a point mutation in the factor V gene leading to replacement of Arg(R)506 with a Gln (Q), and inherited protein S deficiency are associated with functional impairment of the protein C anticoagulant system, yielding lifelong hypercoagulability and increased risk of thrombosis. APC-resistance is often an additional genetic risk factor in thrombosis-prone protein S deficient families. The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. The plasma concentration of F1 + 2 was significantly higher both in 38 individuals carrying the FV:Q506 mutation in heterozygous state (1.7 +/- 0.7 nM; mean +/- SD) and in 48 protein S deficient cases (1.9 +/- 0.9 nm), than in 100 unaffected relatives (1.3 +/- 0.5 nM). Warfarin therapy decreasedthe F1 + 2 levels, even in those four patients who had combined defects (0.5 +/- 0.3 nM). Our results agree with the hypothesis that individuals with APC-resistance or protein S deficiency have an imbalance between pro- and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.
机译：由因子V基因中的点突变导致用Gln（Q）取代Arg（R）506引起的对活化蛋白C的遗传抗性（APC抗性），以及遗传性蛋白S的缺乏都与活化蛋白C的功能受损有关蛋白C抗凝剂系统，可产生终身高凝性，并增加血栓形成的风险。在易于血栓形成的蛋白S缺乏型家庭中，APC抗性通常是另外的遗传危险因素。在具有Arg506到Gln突变（APC抗性）和/或遗传蛋白的34个血栓形成倾向家族中的205个成员中测量了凝血酶原片段1 + 2（F1 + 2）的血浆浓度，这是高凝状态的标志S缺乏症。在杂合状态（1.7 +/- 0.7 nM;平均值+/- SD）的38个携带FV：Q506突变的个体和48个蛋白S缺乏症的病例（1.9 +/- 0.9）中，F1 + 2的血浆浓度均显着升高。 100毫不受影响的亲戚（1.3 +/- 0.5 nM）。华法林治疗降低了F1 + 2水平，即使在四位合并有缺陷的患者中（0.5 +/- 0.3 nM）。我们的研究结果与以下假设相吻合：具有APC抗性或蛋白S缺乏的个体在促凝和抗凝作用力之间存在失衡，从而导致凝血酶生成增加和处于高凝状态。

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