凝血因子VR_2等位基因多态性在血栓相关性疾病患者中的分布  

The factor V HR_2 haplotype:Prevalence and association with various thrombotic diseases

作　　者：胡燕青[1] 陈方平[1] 解勤之[1] 蹇在伏[1] 王光平[1] 左晓霞[1] 

机构地区：[1]中南大学湘雅医院血液科,长沙410008

出　　处：《临床血液学杂志》2002年第4期159-160,共2页Journal of Clinical Hematology

基　　金：国家自然科学基金资助项目 (No.39830 180 )

摘　　要：目的 :通过检测血栓相关性疾病患者的凝血因子V(coagulationfactorV)R2 等位基因多态性 ,探讨R2单体型与血栓形成的相关性。方法 :采用PCR 酶切法对 10 0个脑血栓患者 ,96个心肌梗塞患者 ,45个深静脉血栓患者 ,80个系统性红斑狼疮患者 ,以及 98个正常对照进行FVR2 等位基因检测。结果 :首次发现 2例系统性红斑狼疮患者基因型为R2 等位基因杂合子。结论 :中国汉族人群血栓形成的遗传分子背景与FVHR2 等位基因可能没有相关性。Objective:We investigated the original His 1299 Arg (A4070G)polymorphism( the HR 2 haplotype of the factor V gene) in a case-control study for various thrombotic diseases, including 100 patients with cerebral thrombosis (CI) , 96 patients with myocardial infarction (MI) , 45 patients with deep venous thrombosis(DVT) , 80 patients with systemic lupus erythematosus (SLE) and 98 normal controls. To identify correlation of FV HR 2 with thrombotic events (TE) .Method: Factor V HR 2 haplotype were detected by PCR-Rsa/I digestion.Result: Two HR 2 haplotypes were found in the SLE group for the first time.No significant difference in allele frequency was observed in the clinical groups when compared with that of healthy blood donors. Conclusion: The risk of thrombotic diseases in the presence of the HR 2 allele of the His 1 299Arg polymorphism neither increased nor decreased in Chinese people.

关 键 词：凝血因子V HR2单体型 血栓 

分 类 号：R364.15[医药卫生—病理学]