一例遗传性抗凝血酶缺陷症患者下肢深静脉血栓形成的分析  

Analysis of deep venous thrombosis of lower extremity in a patient with hereditary antithrombin deficiency

作　　者：应芙蓉 徐琦煜[1] 谢耀盛[1] 谢海啸[1] 杨丽红[1] YING Fu-rong;XU Qi-yu;XIE Yao-sheng;XIE Hai-xiao;YANG Li-hong(Department of Clinical Laboratory,the First Affiliated Hospital of Wenzhou Medical University,Zhejiang 325015,China)

机构地区：[1]温州医科大学附属第一医院医学检验中心,浙江325015

出　　处：《中国卫生检验杂志》2023年第6期695-698,共4页Chinese Journal of Health Laboratory Technology

基　　金：温州市科技计划基金(Y20210111)。

摘　　要：目的探讨一例遗传性抗凝血酶(AT)缺陷症家系的临床特征和基因型。方法分别用发色底物法和ELISA法测定先证者的AT活性(AT∶A)和AT抗原(AT∶Ag)水平。采用直接测序法分析SERPINC1基因。借助生物信息学软件辅助分析突变对蛋白功能的影响。结果先证者的AT∶A和AT∶Ag分别下降到43%和107 mg/L。基因分析显示,先证者SERPINC1基因第5外显子存在c.938T>C杂合错义突变(p.Met281Thr)。在线生物信息学软件预测该突变为致病的;保守分析表明,Met281在同源物种间高度保守;蛋白质模型分析显示,该突变使AT蛋白结构发生了改变。结论SERPINC1基因的p.Met281thr突变是引起该先证者遗传性AT缺陷症的原因,并与先证者的血栓形成表现有关。Objective This paper aims to investigate the clinical characteristics and genotype of an inherited family with antithrombin(AT)deficiency.Methods The AT activity(AT:A)and AT antigen(AT:Ag)levels of the proband were determined by hair color substrate method and ELISA method,respectively.The SERPINC1 gene was analyzed by direct sequencing.The effect of mutation on protein function was analyzed by bioinformatics software.Results The AT:A and AT:Ag of the proband decreased to 43%and 107 mg/L respectively.Gene analysis showed that c.938T>C heterozygous missense mutation(p.Met281Thr)was observed on exon 5 of the progenitor SERPINC1 gene.Online bioinformatics software predicted that the mutation was pathogenic.Conservative analysis showed that Met281 was highly conserved among homologous species.Protein model analysis showed that the mutation changed the structure of AT protein.Conclusion The p.Met281Thr mutation in SERPINC1 gene is responsible for the hereditary AT deficiency and is related to the proband's thrombosis performance.

关 键 词：遗传性抗凝血酶缺乏症 基因突变 蛋白质模型 静脉血栓形成 

分 类 号：R554.7[医药卫生—血液循环系统疾病]