凝血因子VR2等位基因多态性在血栓相关性疾病患者中的分布

目的：通过检测血栓相关性疾病患者的凝血因子V（coagulation factorV)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100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。

The factor V HR2 haplotype:Prevalence and association with va rious thrombotic diseases

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.