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Method to explore the presence of a genetic defect associated with deep venous thrombosis.

机译:探索与深静脉血栓形成相关的遗传缺陷的存在的方法。

摘要

A method of screening an individual to determine an increase of venous thrombosis, in particular deep venous thrombosis, comprising detecting the presence in the individual's genome of a target genetic marker of an increased risk of venous thrombosis, in particular thrombosis risk deep vein, wherein the genetic marker is haplotype 2 of the fibrinogen gene & gamma; (FGG-H2) as indicated in Figure 5A (SEQ ID NO: 21) and wherein the presence of FGG-H2 is associated with the presence of a set of one, two, three or four mutations in the nucleic acid material encoding the fibrinogen gamma ;, & mutations from the group consisting of 129A / T (rs2066854), 7874G / a (rs2066861), 9615C / T (rs2066864) and 10034C / T (rs2066865) being selected.
机译:一种筛选个体以确定静脉血栓形成(特别是深静脉血栓形成)增加的方法,其包括检测个体基因组中存在靶基因标记的静脉血栓形成(特别是血栓形成危险深静脉)风险增加,其中遗传标记是纤维蛋白原基因2型的单倍体。 (FGG-H2),如图5A(SEQ ID NO:21)所示,其中FGG-H2的存在与编码纤维蛋白原的核酸材料中存在一组一个,两个,三个或四个突变有关从129A / T(rs2066854),7874G / a(rs2066861),9615C / T(rs2066864)和10034C / T(rs2066865)组成的组中选择gamma和突变。

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