Angchaisuksiri P, Pingsuthiwong S, Aryuchai K, Busabaratana M, Sura T, Atichartakarn V, Sritara P
Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Am J Hematol. 2000 Oct;65(2):119-22. doi: 10.1002/1096-8652(200010)65:2<119::aid-ajh5>3.0.co;2-8.
We investigated the prevalence of a genetic variation in the factor V gene (G1691A Leiden mutation) and the prothrombin gene (G20210A) using polymerase chain reaction techniques in samples from 500 normal Thai population and among 50 unselected Thai patients with an objectively confirmed history of deep venous thrombosis. The prevalence of factor V Leiden and the prothrombin G20210A gene mutation in a group of 500 healthy controls was 0.2% in both groups (allele frequency of 0.1%). Of the 50 adult patients studied, none was a carrier of factor V Leiden or the prothrombin G20210A gene mutation. Our findings confirm that the prevalence of factor V Leiden and prothrombin G20210A gene mutation is lower among Asians than Caucasians and that the distribution of factor V Leiden is similar to that of the prothrombin G20210A variant. The low prevalence of these two mutations can, at least in part, account for the lower frequency of deep venous thrombosis reported in the Thai population. Screening for factor V Leiden and prothrombin gene mutation is of limited benefit and may not be cost-effective in Thai patients with the first episode of deep venous thrombosis.
我们采用聚合酶链反应技术，对500名正常泰国人群以及50名未经挑选、有客观证实的深静脉血栓形成病史的泰国患者样本，调查了凝血因子V基因的一种基因变异（G1691A莱顿突变）和凝血酶原基因（G20210A）的流行情况。在一组500名健康对照者中，凝血因子V莱顿突变和凝血酶原G20210A基因突变的流行率在两组中均为0.2%（等位基因频率为0.1%）。在所研究的50名成年患者中，没有人是凝血因子V莱顿突变或凝血酶原G20210A基因突变的携带者。我们的研究结果证实，亚洲人中凝血因子V莱顿突变和凝血酶原G20210A基因突变的流行率低于白种人，且凝血因子V莱顿突变的分布与凝血酶原G20210A变异的分布相似。这两种突变的低流行率至少在一定程度上可以解释泰国人群中报道的深静脉血栓形成频率较低的原因。对于首次发生深静脉血栓形成的泰国患者，筛查凝血因子V莱顿突变和凝血酶原基因突变的益处有限，可能不具有成本效益。
