Sharma Sanjay, Kumar Sirish I, Poddar Ujjal, Yachha S K, Aggarwal Rakesh
Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India.
Indian J Gastroenterol. 2006 Sep-Oct;25(5):236-9.
Extra-hepatic portal vein obstruction due to portal vein thrombosis (PVT) is an important cause of portal hypertension in several regions including India. The cause of thrombosis in these patients remains unclear. We studied the frequency of mutations in genes for coagulation factors V and II (prothrombin) in 61 Indian patients with PVT and 49 healthy control subjects.
The presence of factor V Leiden mutation and of G20210A prothrombin gene mutation was determined using polymerase chain reaction followed by restriction fragment length polymorphism. Chi-squared test was used to compare patients and controls.
Of the 61 patients (median age 11 years; 47 male) studied, 49 were children. One of 61 (1.6%) patients with PVT was heterozygous for factor V Leiden mutation and none had the G20210 prothrombin gene mutation. The frequencies of these mutations were not different from those in control subjects (2/49 and 0/46, respectively).
Factor V Leiden and G20210 prothrombin gene mutations are infrequent in Indian patients with PVT. Thus, these mutations are unlikely to be responsible for PVT in the Indian population.
门静脉血栓形成（PVT）导致的肝外门静脉阻塞是包括印度在内的多个地区门静脉高压的重要原因。这些患者血栓形成的原因尚不清楚。我们研究了61例印度PVT患者和49例健康对照者凝血因子V和II（凝血酶原）基因突变的频率。
采用聚合酶链反应及限制性片段长度多态性检测因子V Leiden突变和G20210A凝血酶原基因突变。采用卡方检验比较患者和对照者。
在研究的61例患者（中位年龄11岁；47例男性）中，49例为儿童。61例PVT患者中有1例（1.6%）为因子V Leiden突变杂合子，无1例有G20210凝血酶原基因突变。这些突变的频率与对照者（分别为2/49和0/46）无差异。
因子V Leiden和G20210凝血酶原基因突变在印度PVT患者中罕见。因此，这些突变不太可能是印度人群中PVT的病因。
