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在东亚人群中,对活化蛋白C的抵抗及凝血因子V的Arg 506 Gln突变并不常见。

Resistance to activated protein C and Arg 506 Gln factor V mutation are uncommon in eastern Asian populations.

作者信息

Kodaira H, Ishida F, Shimodaira S, Takamiya O, Furihata K, Kitano K

机构信息

2nd Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.

出版信息

Acta Haematol. 1997;98(1):22-5. doi: 10.1159/000203548.

Abstract

We investigated the prevalence of the factor V (FV) Arg 506 Gln mutation in healthy subjects from three eastern Asian countries (Japan, n = 270; China, n = 113; and Korea, n = 93) and in 26 Japanese patients showing venous thromboembolic events. The patients were also examined for activated protein C (APC) resistance by using the Coatest APC resistance kit. The FV mutation was investigated by polymerase chain reaction and restricted enzyme digestion with MnlI RFLP assay of the FV gene. None of the patients showed APC resistance, while all subjects examined were homozygous for Arg at position 506 of the FV gene. Our results imply that FV mutation and APC resistance contribute little to venous thrombotic diseases in eastern Asia.

摘要

我们调查了来自三个东亚国家(日本,n = 270;中国,n = 113;韩国,n = 93)健康受试者以及26名发生静脉血栓栓塞事件的日本患者中凝血因子V(FV)精氨酸506谷氨酰胺突变的发生率。使用Coatest APC抵抗试剂盒对患者进行活化蛋白C(APC)抵抗检测。通过聚合酶链反应和FV基因的MnlI限制性片段长度多态性分析来研究FV突变。所有患者均未表现出APC抵抗,而所有检测的受试者在FV基因506位均为精氨酸纯合子。我们的结果表明,FV突变和APC抵抗对东亚地区的静脉血栓性疾病影响很小。

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