https://scholars.lib.ntu.edu.tw/handle/123456789/188375
標題: | 研究原脂蛋白基因型態對高脂血症病人藥物治療的關連(3/3) | 其他標題: | Studies of Apolipoprotein Genotyping on the Drug Treatment of Hyperlipidemic Patients (3/3) | 作者: | 陳明豐 | 公開日期: | 2005 | 出版社: | 臺北市:國立臺灣大學醫學院內科 | 摘要: | 流行病學研究發現血脂異常和心臟血管疾病的發生密不可分,心 臟血管疾病為一多重因子造成的疾病,有一部份為可修飾的危險因 子,然而有一部份卻是無法改變的危險因素,脂蛋白是一個大分子由 脂質和蛋白所組成,在脂蛋白上的蛋白稱為原脂蛋白,人類的這些原 脂蛋白具有基因變異性,而且已被證實有些突變會引發血脂異常為粥 狀硬化形成之病因之一。本研究利用聚合酵素鏈反應、限制片段長度 多形性以及單股核酸結構多形性的方法,並分析高脂血症病人之apo A-I 基因上之上游75 及下游83 核甘突變;apo A-II 基因之1170-2943 核甘區段及2527 ~2943 核甘區段突變;apo A-IV 之2163 ~2462 鏟除 基因,1527 ~2345 區段突變,2285 ~2390 區段突變以及apo C-III 基 因第3175 核甘序列和3206 核甘序列突變。同時針對Apo B exon 26 基因之C10698T 和exon 29 之A 13132G 和Apo E 之exon2 及exon 4 上的T448C 和C586T ,而Apo B exon 29 之A/G 突變也與三酸甘油酯 的高低有關,得到在apo C-III 基因,在3175 核甘之C →G 的基因變 異和血漿高三酸甘油酯的表現呈有意義正相連,而Apo B exon 29 之 A/G 突變也與三酸甘油酯的高低有關。本研究亦發現許多在西方報告 中提及的變異在國人的分析中,並沒有發現如在Ao A-IV 之 1527-2345 區段變異,和Apo E exon 2 之變異,以及Apo B exon 26 中的熱門變異區塊。研究同時顯示各類原脂蛋白之對偶基因的變異頻率也與西方報告有不同。亦即顯示造成高脂血的基因具有種族差異 性,利用已發展的快速分析技術如SNP 方法來建立國人的疾病相關 基因資料庫實有其必要性。 Atherosclerotic cardiovascular diseases are multi-factorial. Some non-modifiable risk factors (e.g. genetic trait) may attenuate the benefit of risk modification of the modifiable factors. Genetic epidemiology has being widely used to analyze the underline risk of cardiovascular disease and to point the direction of treatment or prevention. The genetic variation or mutation of apolipoprotein, the protein of lipoprotein, has been linked to some lipid abnormality resulting severe atherosclerotic cardiovascular disease. In the present study, the genetic variation or mutation of Apo AI-CIII-AIV cluster, Apo A-II, Apo B and Apo E were analyzed and the correction of these mutation and lipid abnormality were explored. Our results showed ApoC-III (3175NT C →G) mutation was significantly related to hypertriglyceridemia, the same relation was also found in the Apo B exon 29 (13132 NT C →G; 4311 AA Asn →Ser) mutation. It is interesting to find some hot spot mutation among Caucasian population, such as Apo B exon 26 (10699 NT C →A; 3500 AA Arg →Gln), Apo A-IV (1527-2345 NT) and Apo E exon 2 mutations, were not found in tested samples. Most of presented allele frequencies in apolipoteins genes were different between our population and Caucasian population. The present results strongly suggest that it is necessary to establish our own genetic data which are linked to diseases. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/23680 | 其他識別: | 932314B002016 | Rights: | 國立臺灣大學醫學院內科 |
顯示於: | 醫學系 |
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