标题：颅内动脉瘤易感基因及检测技术研究进展

      作者：刘军 1 综述 黄玮 2 审校    1.柳州市人民医院神经外科，广西 柳州 545006；2.广西医科大学第一附属医院神经外科，广西 南宁 530021

      卷次： 2020年31卷20期

      【摘要】 由颅内动脉瘤(IA)破裂导致的蛛网膜下腔出血致死率非常高。早期发现和治疗是预防颅内动脉瘤并发症的关键措施。IA的发生到破裂出血这一过程受到很多因素的影响，包括先天因素(人种、家族性)和后天因素(生活习惯、血流变、血管炎性、环境和相关基因的突变)。因此，在对人们进行健康行为宣教的同时，早期筛检易感基因并采取医学干预是可以有效防治 IA的。然而不同区域和人群相关基因研究结果迥异，基因检测技术也一直在发展和优化中。为了更深入的研究颅内动脉瘤发生和发展的易感基因位点、人群差异、基因检测技术发展状况以及常用分析方法，本文对近年来的相关研究进行系统综述。
      【关键词】 颅内动脉瘤；易感基因；多态性；人种；基因检测
      【中图分类号】 R739.41 【文献标识码】 A 【文章编号】 1003—6350（2020）20—2680—04

Advances in intracranial aneurysm susceptibility genes and detection techniques.
LIU Jun 1, HUANG Wei 2. 1. Departmentof Neurosurgery, Liuzhou People's Hospital, Liuzhou 545006, Guangxi, CHINA; 2. Department of Neurosurgery, FirstAffiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, CHINA【Abstract】 The subarachnoid hemorrhage mortality rate due to intracranial aneurysm (IA) rupture is very high.Early detection and treatment interventions are key to preventing intracranial aneurysm complications. The course fromIA to rupture bleeding is influenced by many factors, including genetic factors (ethnic, familial) and acquired factors (en-vironment, lifestyle, blood rheology, vasculitis, and mutations in related genes). Therefore, in addition to behavioral inter-vention, early screening of susceptibility genes and medical intervention can effectively prevent and treat IA. The poly-morphism of susceptible genes varies from region to region and population. Gene detection technology has also been de-veloping and optimizing. In order to further study the susceptible genes of IA, population differences, the developmentof detection techniques and the genetic analysis methods, this paper reviewed the related studies in recent years.
      【Key words】 Intracranial aneurysm (IA); Susceptibility gene; Polymorphism; Race; Gene detection·综述·doi:10.3969/j.issn.1003-6350.2020.20.027基金项目：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(编号：Z20180297)