日本深静脉血栓形成患者的蛋白S和蛋白C基因突变
Protein S and protein C gene mutations in Japanese deep vein thrombosis patients.
作者信息
Kinoshita Sachiko, Iida Hiroko, Inoue Sumiko, Watanabe Kumiko, Kurihara Masako, Wada Yui, Tsuda Hiroko, Kang Dongchon, Hamasaki Naotaka
机构信息
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maedashi Fukuoka 812-8582, Japan.
出版信息
Clin Biochem. 2005 Oct;38(10):908-15. doi: 10.1016/j.clinbiochem.2005.05.006.
OBJECTIVES
Coagulation factor V Leiden has not been detected in Japanese patients suffering from thrombosis. Hitherto, the constitutional background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to determine pathogenesis for deep vein thrombosis in a Japanese population.
DESIGN AND METHODS
Routine coagulation and fibrinolysis tests were performed to determine the activities of protein S, protein C, antithrombin, plasminogen and fibrinogen. Gene analysis was performed in thrombotic patients having low activities of these factors.
RESULTS
Our study indicates that the frequency (19/85 = 0.22) of mutations of protein S gene in the Japanese patients was 5-10 times higher than that of mutations of protein S gene in Caucasian patients, and the frequency (8/85 = 0.09) of mutations of protein C gene was almost three times higher than that of Caucasian patients. The frequency of antithrombin gene mutation was similar in both populations.
CONCLUSION
Our study reinforces that the genetic anomaly in the protein S/protein C anticoagulation system is an important risk factor for thrombophilia in the Japanese population.
目的
在患有血栓形成的日本患者中未检测到凝血因子V莱顿突变。迄今为止，日本血栓形成患者的体质背景从未得到系统研究。我们进行了一项系统调查，以确定日本人群中深静脉血栓形成的发病机制。
设计与方法
进行常规凝血和纤维蛋白溶解试验，以测定蛋白S、蛋白C、抗凝血酶、纤溶酶原和纤维蛋白原的活性。对这些因子活性较低的血栓形成患者进行基因分析。
结果
我们的研究表明，日本患者中蛋白S基因突变的频率（19/85 = 0.22）比白种人患者中蛋白S基因突变的频率高5至10倍，蛋白C基因突变的频率（8/85 = 0.09）几乎比白种人患者高3倍。两个群体中抗凝血酶基因突变的频率相似。
结论
我们的研究强化了蛋白S/蛋白C抗凝系统中的基因异常是日本人群中血栓形成倾向的重要危险因素这一观点。
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