海南地区静脉血栓栓塞症患者活化蛋白C抵抗与凝血因子V基因多态性研究

Activated protein C resistance and genetic polymorphisms of factor V in patients with venous thromboembolism in Hainan Province

目的了解海南地区静脉血栓栓塞症(venous thromboembolism,VTE)患者及健康人群活化蛋白C抵抗(activated protein C resistance,APCR)情况以及可能的凝血因子V基因缺陷(FV Leiden、FV HongKong/Cambridge)。方法收集2014年1月至2017年1月在海南省人民医院住院的海南籍汉族VTE患者共计101名以及海南籍健康人群104名,检测两组人群中是否存在APCR现象,用多聚酶链反应-限制性内切酶长度多态性分析(PCR-RLFP)以及基因测序方法检测FV Leiden、FV HongKong/Cambridge基因。结果 VTE组APCR阳性率明显高于对照组(P <0. 05)。在101名VTE患者当中检出1例杂合突变FV Leiden和3例FV HongKong基因型,未发现纯合突变FV Leiden以及FV Cambridge基因型。对照组人群中未发现上述异常基因。结论 APCR可能是导致海南地区人群VTE发病的危险因素,FV Leiden基因在海南人群中少见,FV HongKong可能是海南地区VTE人群较特异的致病基因。

ObjectiveTo explore the prevalence of activated protein C resistance （APCR） and accompanying factor V gene defects （FV Leiden, FV HongKong, and FV Cambridge） in patients with venous thromboembolism （VTE） and healthy adults in Hainan Province of China. MethodsThis study was conducted among 101 patients with VTE and 104 healthy adults of Han Nationality from Hainan Province, who were admitted in our hospital between January, 2014 and January, 2017. Blood samples were obtained from the participants for testing of APCR, and factor V gene mutations （FV Leiden, FV HongKong, and FV Cambridge） were detected using PCR-restriction fragment length polymorphism （PCR-RLFP） and gene sequencing. ResultsThe patients with VTE had a significantly higher rate of APCR than the control subjects （P〈0.05）. Of the 101 patients with VTE, 1 patient was identified as a factor V Leiden heterozygote carrier and 3 patients were found to carry FV HongKong mutation, while no mutations in factor V gene were found in the control group. ConclusionAPCR might serve as a risk factor for VTE in the population in Hainan Province, in whom carriers of FV Leiden gene are scarce. FV HongKong may be a specific mutation in the local residents with VTE in Hainan Province.