血栓及血栓前状态与凝血因子V基因多态性和APCR及HHcy的相关性研究  

Correlation of Thrombosis and Prothrombotic State with Coagulation Factor V Gene Polymorphism and APCR.HHcy

作　　者：高丽霞[1] 丁秋兰[2] 吴克雄[1] 胡军[1] 王学锋[2] 东传玲[1] 戴菁[2] 张斌[1] 代静[1] 贺萍[1] 张学平[3] 王云霞[4] 

机构地区：[1]新疆克拉玛依市中心医院血液肿瘤科,新疆克拉马依834000 [2]上海交通大学医学院附属瑞金医院检验科,上海200050 [3]新疆克拉玛依市中心医院检验科,新疆克拉马依834000 [4]新疆乌鲁木齐市疾病预防控制中心,新疆乌鲁木齐830000

出　　处：《中国实验血液学杂志》2016年第6期1850-1855,共6页Journal of Experimental Hematology

基　　金：克拉马依市级科学进步项目(sk2009-28)

摘　　要：目的:探讨血栓患者与高同型半胱氨酸血症(HHcy)、活化蛋白C抗性(APCR)及凝血因子v基因多态性的关系。方法:300例健康查体者为正常对照;纳入研究的223例血栓患者中,经计算机断层显像(CT)的脑梗塞(CI)80例、心肌梗塞(MI)82例和静脉血栓栓塞(VTE)61例;另纳入研究的270例血栓前状态患者中,妊高症(PTH)76例、慢性阻塞性肺疾病(COPD)62例、糖尿病(DM)60例和癌症(CA)72例。以循环酶法和APTT凝固法分别测定病例组和正常对照血浆中HHcy及APCR,并用限制性内切酶片段多态性(RFLP)测定FV G1691-A、G1091-C、A1090-G等3种基因多态性的发生情况。结果:静脉血栓患者APCR阳性率最高(62.29%),正常对照组APCR阳性很低(7.33%),而其HHcy阳性分别为68.42%及10.00%。发现3例FV基因杂合突变静脉血栓患者为APCR阳性。结论:静脉血栓患者HHcy阳性率明显高于正常对照,HHcy是引起静脉血栓患者血栓形成的重要原因之一,静脉血栓患者存在APCR,而APCR阳性可能与凝血因子V基因多态性有关。Objective：To investigate the correlation of patients with thrombosis or prothrombotic status with hyperhomocysteinemia（HHcy）,activated protein C-resistance（APCR） and gene polymorphism of coagulation factor V.Methods：Three hundred healthy voluteers were selected as controls,223 cases of thrombosis（80 cases of cerebral infarction of CT,the MI of 82 cases of myocardial infarction,venous thrombosis of VTE 61 cases）,270 cases of patients with prothrombotic state（76 cases of pregnancy disease of PIH,62 cases of chronic obstructive pulmonary disease（COPD）,60 cases of diabetes（DM） and 72 cases of cancer） were enrolled in this study.The plasma APCR and hyperhomocysteinemia were detected by APTT coagulation method and cycling enzyme method respectively,and restriction fragment length polymorphism（RFLP） were was used to detect the gene polymorphism of FV G1691-A,G1091-C and A1090-G in the patient and control groups.Results：APCR positive rate was 62.29%and 7.33%,and the positive hyperhomocysteinemia accounted for 68.42%and 10.00%respectively in the group of the patients with venous thrombosis and the normal control group.3 cases of heterozygous FV gene mutations were found in the APCR-positive patients with venous thrombosis.Conclusion：HHcy possitive rate of patients with venous thrombosis is signiticantly higher than that in control,the HHcy is one of the important causes resulting in thrombosis,the patients with venous thrombosis have proved to be with APCR,and the possitive APCR may be related with the coagulation factor V gene polymorphism.

关 键 词：血栓 血栓前状态 高同型半胱氨酸血症 活化蛋白C抵抗 凝血因子V 

分 类 号：R364.15[医药卫生—病理学] R543.31[医药卫生—基础医学]