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Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.

机译:在韩国36例深静脉血栓形成患者中,有3例检测到纤溶酶原基因的Ala601Thr突变。

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摘要

Plasminogen is a key proenzyme in the fibrinolytic and thrombolytic systems. Congenital deficiency of plasminogen and molecular abnormality of plasminogen (dysplasminogenemia) have been reported in association with the thrombotic tendency in human. In dysplasminogenemia, the level of immunoreactive plasminogen is normal, although the functional activity is reduced. Human plasminogen gene spans about 52.5 kb of DNA and consists of 19 exons. Three types of mutations (Ala601Thr, Val355Phe, and Asp676Asn) have been described in dysplasminogenemia. In this study, we measured the plasminogen activity in patients with deep vein thrombosis and analyzed the DNA sequence to detect three point mutations (Ala601Thr, Val355Phe and Asp676Asn) in patients with hypo/dysplasminogenemia. Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia. In conclusion, dysplasminogenemia is not rare in deep vein thrombosis, which suggests a risk factor for the thrombosis in Korean population.
机译:纤溶酶原是纤溶和血栓溶解系统中的关键酶。据报道,先天性血纤维蛋白溶酶原缺乏和血纤维蛋白溶酶原的分子异常(血纤维蛋白溶酶原血症)与人的血栓形成趋势有关。在血纤维蛋白溶酶原血症中,尽管功能活性降低,但免疫反应性血纤维蛋白溶酶原水平是正常的。人类纤溶酶原基因跨越约52.5 kb的DNA,由19个外显子组成。在血纤维蛋白溶酶原血症中已描述了三种类型的突变(Ala601Thr,Val355Phe和Asp676Asn)。在这项研究中,我们测量了深静脉血​​栓形成患者的纤溶酶原活性,并分析了DNA序列以检测低/血纤维蛋白溶酶原血症患者的三个点突变(Ala601Thr,Val355Phe和Asp676Asn)。在不相关的36例深静脉血栓形成患者中,有3例(8.3%)发现了血纤维蛋白溶酶原血症,在所有3例血纤维蛋白溶酶原血症患者中均检测到Ala601Thr突变。总之,在深静脉血栓形成中血纤维蛋白溶酶原血症并不罕见,这表明朝鲜族人群血栓形成的危险因素。

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