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首页> 外文期刊>Molecular biology reports >Prevalence of factor V leiden, MTHFR C677T and MTHFR A1298C polymorphisms in patients with deep vein thrombosis in Central Iran
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Prevalence of factor V leiden, MTHFR C677T and MTHFR A1298C polymorphisms in patients with deep vein thrombosis in Central Iran

机译：伊朗中部深静脉血栓形成患者v leiden，MTHFR C677T和MTHFR A1298C多态性的患病率

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Deep vein thrombosis (DVT) is a common disease, especially among elderly patients, which is associated with high costs of treatment and high rates of recurrence. The risk factors for venous thrombosis are primarily related to hypercoagulability, which can be genetic or acquired, or because of immobilization and venous stasis. Among relevant genetic markers are a number of common polymorphisms and mutations in the genes coding for Factor V leiden and methylenetetrahydrofolate reductase. Differential associations of these polymorphisms have been reported in different populations with DVT due to ethnic variations. However, no study has been reported with respect to these polymorphisms in DVT in Iran. Thus, the aim of the present study is to determine the prevalence of FVL, MTHFR C677T and MTHFR A1298C gene polymorphisms in patients with DVT in central Iran. In the present cross-sectional study, a total of 100 patients with first and recurrent episodes of DVT and age less than 70 years were recruited during 2016-2017. Blood sample was collected from the recruited patients and FVL mutation was screened using ARMS-PCR method, MTHFR C677T and MTHFR A1298C mutations were screened using PCR-RFLP method. The results revealed that MTHFR A1298C gene polymorphism in both homozygote and heterozygote form was found to be most frequent i.e. 77% among cases, followed by MTHFR C677T (67%) and FVL (17%). The study highlights the importance of screening of these genetic markers among patients with DVT in this region.
机译：深静脉血栓形成（DVT）是一种常见的疾病，尤其是老年患者，与治疗高成本和高复发率相关。静脉血栓形成的危险因素主要与超凝血性有关，它可以是遗传或获得的，或因固定和静脉淤滞而有关。在相关的遗传标记中，是编码因子V leiden和甲基四乙烯酸还原酶的基因中许多常见的多态性和突变。由于种族变异，在不同的人群中，已经报道了这些多态性的差异关联。然而，在伊朗的DVT中没有报告了关于这些多态性的研究。因此，本研究的目的是确定伊朗中部DVT患者FVL，MTHFR C677T和MTHFR A1298C基因多态性的患病率。在目前的横截面研究中，2016 - 2017年期间招募了总共100名和经常发作的DVT和年龄不到70年的患者。从募集的患者中收集血液样品，并使用武器-PCR方法筛选FVL突变，使用PCR-RFLP方法筛选MTHFR C677T和MTHFR A1298C突变。结果表明，在纯合子和杂合子形式中的MTHFR A1298C基因多态性是最常见的，即77％的病例，其次是MTHFR C677T（67％）和FVL（17％）。该研究突出了该地区DVT患者筛选这些遗传标记的重要性。

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