Dahlbäck B
Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
Ann Med. 1995 Apr;27(2):187-92. doi: 10.3109/07853899509031957.
Venous thrombosis is often familial, but until recently well-defined genetic defects were only found in a minority of patients. The situation changed with the discovery of inherited resistance to activated protein C (APC) as a novel mechanism for familial thrombophilia. It is caused by a single point mutation in the factor V gene, which predicts replacement of Arg506 in the APC-cleavage site with a Gln. APC resistance is found in a majority of patients with familial thrombosis as well as in 3-7% of the general population. It afflicts affected individuals with a life-long increased risk of thrombosis. The factor V gene mutation is the most prevalent single gene defect associated with thromboembolic disease so far described.
静脉血栓形成往往具有家族性，但直到最近，明确的基因缺陷仅在少数患者中被发现。随着遗传性活化蛋白C（APC）抵抗作为家族性血栓形成倾向的一种新机制的发现，情况发生了变化。它是由凝血因子V基因中的单点突变引起的，该突变预测APC切割位点的精氨酸506被谷氨酰胺取代。在大多数家族性血栓形成患者以及3%至7%的普通人群中都发现了APC抵抗。它使受影响的个体终生面临血栓形成风险增加的问题。凝血因子V基因突变是迄今为止所描述的与血栓栓塞性疾病相关的最常见的单基因缺陷。
