PAI-1和FV基因多态性与静脉血栓的临床意义  

Clinical significance of PAI⁃1 and FV gene polymorphisms and venous thrombosis

作　　者：陈晨[1] 刘艳枚 曾汶烯 成彬 周美芳 尹卫国 CHEN Chen;LIU Yanmei;ZENG Wenxi;CHENG Bin;ZHOU Meifang;YIN Weiguo(Department of Laboratory Medicine,Center for Molecular Diagnostics,Affiliated Qingyuan Hospital,Guangzhou Medical University,Qingyuan People's Hospital,Qingyuan,Guangdong,China,511518;Department of Laboratory Medicine,Qingcheng District People's Hospital of Qingyuan City,Qingyuan,Guangdong,China,511500)

机构地区：[1]广州医科大学附属清远医院(清远市人民医院),检验医学部分子诊断中心,广东清远511518 [2]清远市清城区人民医院检验科,广东清远511500

出　　处：《分子诊断与治疗杂志》2024年第2期234-238,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广州医科大学附属清远医院院内基金(20190214)。

摘　　要：目的 一种新技术检测静脉血栓相关基因纤溶酶原激活物抑制剂-1(PAI-1)和凝血因子V(FV)基因多态性,分析清远地区人群基因频率分布情况,指导静脉血栓临床药物治疗。方法 提取2020年4月至2021年8月在清远市人民医院行静脉血栓基因检测的2 281例患者DNA,应用数字荧光分子杂交法检测PAI-1和FV基因多态性,并进行Sanger测序加以验证,大数据分析清远市人民医院就诊患者基因型分布频率,评估男、女性和心、脑血管疾病、肿瘤患者PAI-1和FV基因是否突变与发生静脉血栓的风险,指导抗血栓药物使用。结果 数字荧光分子杂交与Sanger测序结果完全符合(100%);大数据发现本地区人群PAI-1基因呈多态性分布(19.33%、50.33%、30.34%),而FV基因型突变极少,多为野生纯合型(99.91%);PAI-1和FV基因型频率和等位基因频率在男、女性和心、脑血管疾病、肿瘤患者人群中差异无统计学意义(P均>0.05);PAI-1基因多态性与疾病进程无明显相关性。结论 PAI-1基因检测对静脉血栓药物应用极具临床意义,可实现精准化个体治疗,但PAI-1基因多态性与其他疾病和性别无关。Objective To develop a new technology for detecting the gene polymorphism and ex-pression levels of venous thrombosis-related gene plasminogen activator inhibitor-1(PAI-1)and coagulation factor V(FV)loci,and to analyze the distribution of gene frequencied in the Qingyuan area and provide guid-ance for the clinical drug treatment of venous thrombosis.Methods DNA was extracted from 2281 patients who underwent venous thrombosis gene testing at Qingyuan Peoples Hospital from April 2020 to August 2021.Digital fluorescence molecular hybridization was used to detect the polymorphisms of venous thrombosis-related genes PAI-1 and FV.Sanger sequencing was performed for verification.Big data analysis was conduct-ed at our hospital to determine the frequency of genotype distribution in the patient population.This analysis al-so assessed the risk of venous thrombosis in males,females,and patients with heart,cerebrovascular disease and cancer,with or without venous thrombosis genotype mutation.The findings of this analysis will guide the selection of antithrombotic drug types and concentrations.Results The results of digital fluorescence molecu-lar hybridization and Sanger sequencing were completely consistent(100%).The big data analysis revealed that the PAI-1 gene in the population of this region exhibited polymorphism with frequencies of 19.33%,50.33%,30.34%.However,the FV genotype mutation was rare,with the majority being wild homozygous(99.91%).The genotype frequency and allele frequency of PAI-1 and FV loci differed between males and fe-males,but these differences were not statistically significant in patients with heart,cerebrovascular diseases and tumors(P>0.05).Furthermore,there was no significant correlation found between PAI-1 gene polymor-phism and disease progression.Conclusion The detection of PAI-1 is of great clinical significance for the ap-plication of drugs for venous thrombosis.By assessing the genotype of venous thrombosis,patients can be eval-uated for the high and low risk of drug use,enabling precise in

关 键 词：PAI-1 静脉血栓 基因型 数字荧光分子杂交 

分 类 号：R543.6[医药卫生—心血管疾病]