eNOS基因多态性与颅内动脉瘤发病的相关性研究
发布时间：2019-07-03 17:30
【摘要】：目的研究中国青岛地区健康人群与颅内动脉瘤(IA)患者内皮型一氧化氮合成酶(eNOS)的基因型与等位基因频率分布特点；结合临床资料对与颅内动脉瘤发病及预后相关的因素进行分析。 方法选取青岛大学附属医院神经外科2013年1月～2013年12月收治的颅内动脉瘤患者60例作为研究对象,同时选取60例健康志愿者作为对照组。应用聚合酶链反应(PCR)扩增提取自实验对象外周静脉血的基因组DNA,对其目的基因产物进行限制性片段长度多态性(restriction fragment length polymorphism, RFLP)分析及eNOS基因型检测。所得数据进行统计学分析,根据G/T等位基因在病例组和对照组出现的频率差异来探讨eNOS基因型与IA发病的相关性。回顾性分析1997年1月至2012年6月青岛大学附属医院收治的385例前交通动脉瘤患者,结合患者的发病情况、术前评估、术中所见动脉瘤特点和术后恢复等方面分析前交通动脉瘤形成的原因以及影响患者预后的因素及防治措施。 结果60例IA患者中男28例,女32例,男女之比为1：1.14;年龄15～76岁,平均年龄54.5；其中前交通动脉瘤25例(41.67%),大脑中动脉瘤13例(21.67%),其余部位动脉瘤共22例(36.67%)。eNOS基因第七外显子894位点上等位基因G/T共组成3种基因型：GG、GT、TT；在IA病例组中,GG纯合子28例(46.67%),GT杂合子18例(30.0%),TT纯合子14例(23.33%)；对照组中GG纯合子39例(65.00%),GT杂合子16例(26.67%),TT纯合子5例(8.33%)；等位基因T以及不同基因型在组间出现的频率差异具有统计学意义。385例前交通动脉瘤患者全部采用显微外科手术治疗,术中观察动脉瘤的发出部位,瘤体大小、指向、与载瘤动脉的解剖关系,以及前交通动脉复合体的发育情况；结果发现动脉瘤发自左A2与前交通动脉夹角270例,右A2与前交通动脉夹角93例,前交通动脉中段25例。瘤体指向前上方107例,前下方76例,后上方120例,后下方68例,复杂指向17例。治愈340例(88.3%)、好转13例(3.4%)、植物生存6例(1.6%)、死亡26例(6.8%)。结论颅内动脉瘤是多种因素作用而导致的疾病,eNOS基因894G/T多态性可能是其形成的危险因素之一,前交通动脉复合体的发育异常以及复杂的血流动力学是动脉瘤形成的重要原因,瘤体指向与患者的预后密切相关。对病因的探讨以及术后疗效的分析可以提高对该病的认识,对临床诊治工作提供新的借鉴。
[Abstract]:Objective to study the genotypic and isogenic frequency distribution of endothelial nitric oxide Synthase (eNOS) in healthy people and patients with intracranial aneurysm (IA) in Qingdao, China, and to analyze the factors related to the incidence and prognosis of intracranial aneurysm combined with clinical data. Methods from January 2013 to December 2013, 60 patients with intracranial aneurysm were selected from the Department of Neurosurgery, affiliated Hospital of Qingdao University, and 60 healthy volunteers were selected as the control group. The genomic DNA, extracted from peripheral venous blood was amplified by polymerase chain reaction (PCR). The target gene product was analyzed by restriction fragment length polymorphism (restriction fragment length polymorphism, RFLP) and eNOS genotype was detected. The data were statistically analyzed to explore the relationship between eNOS genotype and the incidence of IA according to the frequency difference of G / T allele between the case group and the control group. From January 1997 to June 2012, 385 patients with anterior communicating artery aneurysm treated in affiliated Hospital of Qingdao University were analyzed retrospectively. combined with the incidence of anterior communicating artery aneurysm, preoperative evaluation, characteristics of aneurysm seen during operation and postoperative recovery, the causes of anterior communicating artery aneurysm formation, the factors affecting the prognosis of the patients and the prevention and treatment measures were analyzed. Results there were 28 males and 32 females in 60 patients with IA, the ratio of male to female was 1 鈮，
本文编号：2509554
[Abstract]:Objective to study the genotypic and isogenic frequency distribution of endothelial nitric oxide Synthase (eNOS) in healthy people and patients with intracranial aneurysm (IA) in Qingdao, China, and to analyze the factors related to the incidence and prognosis of intracranial aneurysm combined with clinical data. Methods from January 2013 to December 2013, 60 patients with intracranial aneurysm were selected from the Department of Neurosurgery, affiliated Hospital of Qingdao University, and 60 healthy volunteers were selected as the control group. The genomic DNA, extracted from peripheral venous blood was amplified by polymerase chain reaction (PCR). The target gene product was analyzed by restriction fragment length polymorphism (restriction fragment length polymorphism, RFLP) and eNOS genotype was detected. The data were statistically analyzed to explore the relationship between eNOS genotype and the incidence of IA according to the frequency difference of G / T allele between the case group and the control group. From January 1997 to June 2012, 385 patients with anterior communicating artery aneurysm treated in affiliated Hospital of Qingdao University were analyzed retrospectively. combined with the incidence of anterior communicating artery aneurysm, preoperative evaluation, characteristics of aneurysm seen during operation and postoperative recovery, the causes of anterior communicating artery aneurysm formation, the factors affecting the prognosis of the patients and the prevention and treatment measures were analyzed. Results there were 28 males and 32 females in 60 patients with IA, the ratio of male to female was 1 鈮，
本文编号：2509554
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