Kumar Narender, Sundaram Archana, Rani Neetu, Ahluwalia Jasmina, Das Reena, Varma Neelam, Suri Vikas, Malhotra Pankaj
1Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012 India.
2Pathology (Group C) Departments, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012 India.
Indian J Hematol Blood Transfus. 2020 Jan;36(1):183-186. doi: 10.1007/s12288-019-01146-1. Epub 2019 Jun 12.
The Marburg I polymorphism (G511E) in gene was listed as one of the risk factor for idiopathic DVT among the western population. The frequency of Marburg I polymorphism in India is presently not known. Fifty DVT cases and 50 healthy controls were tested for Marburg I polymorphism using ARMS-PCR technique. The thrombophilic risk factors (Protein C, Protein S, Antithrombin III, Factor V Leiden and antiphospholipid antibodies) were also determined. Marburg I polymorphism (heterozygous) was found in 2 patients (4%) but not in control subjects. These two cases did not have any other thrombophilia markers. Among the thrombophilic markers, heterozygous FVL mutation, PS, PC, AT deficiencies and antiphospholipid antibodies were seen in 10%, 10%, 6%, 6% and 8% of the patients respectively. The controls showed only the presence of antiphospholipid antibodies in 6% of subjects. Marburg I polymorphism among Indians DVT patients was determined for the first time. Its incidence was found in 4% of cases and not in controls. Although not statically significant this may be considered as one of the contributory risk factors for the development of DVT. A larger study is required for the validation of data.
基因中的马尔堡I多态性（G511E）被列为西方人群特发性深静脉血栓形成的危险因素之一。目前尚不清楚印度马尔堡I多态性的频率。采用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）技术对50例深静脉血栓形成患者和50例健康对照者进行马尔堡I多态性检测。同时还测定了血栓形成倾向危险因素（蛋白C、蛋白S、抗凝血酶III、凝血因子V莱顿和抗磷脂抗体）。2例患者（4%）发现马尔堡I多态性（杂合子），而对照者未发现。这两例患者没有任何其他血栓形成倾向标志物。在血栓形成倾向标志物中，分别有10%、10%、6%、6%和8%的患者出现杂合子FVL突变、蛋白S、蛋白C、抗凝血酶III缺乏和抗磷脂抗体。对照组仅6%的受试者存在抗磷脂抗体。首次确定了印度深静脉血栓形成患者中的马尔堡I多态性。其发生率在4%的病例中发现，而对照者未发现。尽管无统计学意义，但这可被视为深静脉血栓形成发展的促成危险因素之一。需要进行更大规模的研究来验证数据。
