遗传性易栓症基因诊断的研究进展  

Research progress of genetic diagnosis for hereditary thrombophilia

作　　者：余晴 方宝枝[1] 吕明恩[1] YU Qing;FANG Baozhi;LYU Ming'en(Department of Hematology,Suzhou Hospital Affiliated to Nanjing Medical University,Suzhou Municipal Hospital,Suzhou,Jiangsu,215002)

机构地区：[1]南京医科大学附属苏州医院/苏州市立医院血液科,江苏苏州215002

出　　处：《实用临床医药杂志》2022年第21期140-143,148,共5页Journal of Clinical Medicine in Practice

基　　金：国家自然科学基金资助项目(81700111);2021年度苏州市科技发展计划[医疗卫生科技创新-应用基础研究(第二批)]项目(SKJYD2021119)。

摘　　要：血栓形成的遗传因素是首次血栓栓塞事件的重要危险因素。目前临床常规检测不能明确血栓病因,而血栓形成的倾向性检查也不明确,导致患者无法得到有效的血栓形成风险评估。因此,完善遗传性血栓性疾病的筛查内容将有利于对患者血栓前状态进行综合评估。随着基因测序技术的发展,基因诊断在血栓事件中的作用愈发受到重视。对遗传性易栓症进行早期基因诊断,既可以使患者得到有效诊疗,也可以扩大样本数据用于研究致病分子机制。本研究对遗传性易栓症基因检测技术、相关致病基因及功能特征、基因诊断流程等研究进展进行综述。Genetic cause of thrombosis is an important risk factor for the first thromboembolic event. At present, the etiology of thrombosis cannot be determined by routine clinical tests, and the examination of thrombosis tendency is still not clear, which leads to the failure of obtaining effective risk assessment of thrombosis in patients. Therefore, improving the screening content of hereditary thrombotic disease will be conducive to comprehensive evaluation of patient’s prethrombotic state. With the development of gene sequencing technology, more and more attention has been paid to the role of gene diagnosis in thrombotic events. Genetic diagnosis in early stage for hereditary thrombophilia can not only enable the patients to get effective diagnosis and treatment, but also expand the sample data to study the pathogenic molecular mechanism. In this study, we reviewed the research progress of genetic detection technology, related pathogenic genes and functional characteristics and processes of genetic diagnosis for hereditary thrombophilia.

关 键 词：遗传性易栓症 基因突变 基因诊断 基因测序 

分 类 号：R331.3[医药卫生—人体生理学] Q[医药卫生—基础医学]