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eNOS基因多態(tài)性與顱內(nèi)動(dòng)脈瘤發(fā)病的相關(guān)性研究

發(fā)布時(shí)間:2019-07-03 17:30
【摘要】:目的研究中國青島地區(qū)健康人群與顱內(nèi)動(dòng)脈瘤(IA)患者內(nèi)皮型一氧化氮合成酶(eNOS)的基因型與等位基因頻率分布特點(diǎn);結(jié)合臨床資料對(duì)與顱內(nèi)動(dòng)脈瘤發(fā)病及預(yù)后相關(guān)的因素進(jìn)行分析。 方法選取青島大學(xué)附屬醫(yī)院神經(jīng)外科2013年1月~2013年12月收治的顱內(nèi)動(dòng)脈瘤患者60例作為研究對(duì)象,同時(shí)選取60例健康志愿者作為對(duì)照組。應(yīng)用聚合酶鏈反應(yīng)(PCR)擴(kuò)增提取自實(shí)驗(yàn)對(duì)象外周靜脈血的基因組DNA,對(duì)其目的基因產(chǎn)物進(jìn)行限制性片段長(zhǎng)度多態(tài)性(restriction fragment length polymorphism, RFLP)分析及eNOS基因型檢測(cè)。所得數(shù)據(jù)進(jìn)行統(tǒng)計(jì)學(xué)分析,根據(jù)G/T等位基因在病例組和對(duì)照組出現(xiàn)的頻率差異來探討eNOS基因型與IA發(fā)病的相關(guān)性;仡櫺苑治1997年1月至2012年6月青島大學(xué)附屬醫(yī)院收治的385例前交通動(dòng)脈瘤患者,結(jié)合患者的發(fā)病情況、術(shù)前評(píng)估、術(shù)中所見動(dòng)脈瘤特點(diǎn)和術(shù)后恢復(fù)等方面分析前交通動(dòng)脈瘤形成的原因以及影響患者預(yù)后的因素及防治措施。 結(jié)果60例IA患者中男28例,女32例,男女之比為1:1.14;年齡15~76歲,平均年齡54.5;其中前交通動(dòng)脈瘤25例(41.67%),大腦中動(dòng)脈瘤13例(21.67%),其余部位動(dòng)脈瘤共22例(36.67%)。eNOS基因第七外顯子894位點(diǎn)上等位基因G/T共組成3種基因型:GG、GT、TT;在IA病例組中,GG純合子28例(46.67%),GT雜合子18例(30.0%),TT純合子14例(23.33%);對(duì)照組中GG純合子39例(65.00%),GT雜合子16例(26.67%),TT純合子5例(8.33%);等位基因T以及不同基因型在組間出現(xiàn)的頻率差異具有統(tǒng)計(jì)學(xué)意義。385例前交通動(dòng)脈瘤患者全部采用顯微外科手術(shù)治療,術(shù)中觀察動(dòng)脈瘤的發(fā)出部位,瘤體大小、指向、與載瘤動(dòng)脈的解剖關(guān)系,以及前交通動(dòng)脈復(fù)合體的發(fā)育情況;結(jié)果發(fā)現(xiàn)動(dòng)脈瘤發(fā)自左A2與前交通動(dòng)脈夾角270例,右A2與前交通動(dòng)脈夾角93例,前交通動(dòng)脈中段25例。瘤體指向前上方107例,前下方76例,后上方120例,后下方68例,復(fù)雜指向17例。治愈340例(88.3%)、好轉(zhuǎn)13例(3.4%)、植物生存6例(1.6%)、死亡26例(6.8%)。結(jié)論顱內(nèi)動(dòng)脈瘤是多種因素作用而導(dǎo)致的疾病,eNOS基因894G/T多態(tài)性可能是其形成的危險(xiǎn)因素之一,前交通動(dòng)脈復(fù)合體的發(fā)育異常以及復(fù)雜的血流動(dòng)力學(xué)是動(dòng)脈瘤形成的重要原因,瘤體指向與患者的預(yù)后密切相關(guān)。對(duì)病因的探討以及術(shù)后療效的分析可以提高對(duì)該病的認(rèn)識(shí),對(duì)臨床診治工作提供新的借鑒。
[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,

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