Beufé S, Borg J Y, Vasse M, Charbonnier F, Moreau V, Monconduit M, Frebourg T
Laboratoire d'Hématologie, Centre Hospitalo-Universitaire de Rouen, France.
Br J Haematol. 1995 Mar;89(3):659-62. doi: 10.1111/j.1365-2141.1995.tb08384.x.
The activated protein C (APC) resistance phenotype results from a mutation at one of the cleavage sites of factor V by APC (Q506). We describe a large family with an APC resistance phenotype and without any other detectable coagulation defect, including eight subjects who had developed deep venous thrombosis (mean age of the first thrombosis episode 29 years; range 17-55 years). The factor V Q506 mutation was detected in the seven patients with thrombosis who could be tested and in 13 asymptomatic subjects (mean age 17 years; range 5-33 years). The APC resistance was detectable in only 10 heterozygotes among the 19 tested. These data suggest that, in affected families, the risk for the factor V Q506 mutation carriers to develop thrombosis may be very high and that factor V genotyping must be performed in patients with thrombosis even without any detectable APC resistance phenotype.
活化蛋白C（APC）抵抗表型是由APC对因子V的一个裂解位点（Q506）发生突变所致。我们描述了一个具有APC抵抗表型且无任何其他可检测到的凝血缺陷的大家族，其中包括8名发生过深静脉血栓形成的受试者（首次血栓形成发作的平均年龄为29岁；范围为17 - 55岁）。在7例可进行检测的血栓形成患者以及13名无症状受试者（平均年龄17岁；范围为5 - 33岁）中检测到了因子V Q506突变。在19名接受检测的人中，仅在10名杂合子中检测到了APC抵抗。这些数据表明，在受影响的家族中，因子V Q506突变携带者发生血栓形成的风险可能非常高，并且即使在没有任何可检测到的APC抵抗表型的血栓形成患者中也必须进行因子V基因分型。
