本文關(guān)鍵詞： ATP結(jié)合盒轉(zhuǎn)動(dòng)子A1 膽固醇逆轉(zhuǎn)運(yùn) 高密度脂蛋白 動(dòng)脈粥樣硬化 冠心病 單核苷酸多態(tài)性　出處：《第一軍醫(yī)大學(xué)》2006年碩士論文　論文類型：學(xué)位論文

【摘要】：一．研究背景 ATP結(jié)合盒轉(zhuǎn)運(yùn)子A1(ABCA1)基因，是ABCA亞族成員之一。自Bodzioch M等首次明確ABCA1基因突變是Tangier病的病因以來，目前已經(jīng)明確ABCA1介導(dǎo)細(xì)胞內(nèi)膽固醇和磷脂外流，在膽固醇逆轉(zhuǎn)運(yùn)(RCT)和高密度脂蛋白(HDL)生成的起始步驟中起重要作用，是RCT的限速基因，并與動(dòng)脈粥樣硬化(AS)和冠心病(CAD)的發(fā)生密切相關(guān)。ABCA1基因的單核苷酸多態(tài)性(SNP)廣泛存在，至今為止，已發(fā)現(xiàn)90多個(gè)與疾病相關(guān)的ABCA1基因突變或SNP位點(diǎn)，這些SNP位點(diǎn)大多分布在基因的編碼區(qū)，對(duì)控制ABCA1基因的表達(dá)以及血脂水平的調(diào)節(jié)和導(dǎo)致AS和CAD的發(fā)生起著重要作用。但這些SNP絕大部分的分布特點(diǎn)以及作用機(jī)制目前尚不清楚，這正是當(dāng)前國內(nèi)外生命科學(xué)研究的一個(gè)熱點(diǎn)。 二、研究目的 ABCA1基因有50個(gè)外顯子，我們實(shí)驗(yàn)小組分別對(duì)50個(gè)外顯子SNP位點(diǎn)進(jìn)行篩選(本人負(fù)責(zé)第19-34號(hào)外顯子)，，以發(fā)現(xiàn)新的SNP及確定各SNP位點(diǎn)在漢族人中的分布情況。第7號(hào)外顯子R219K位點(diǎn)在已知的ABCA1基因SNPs中發(fā)生率第一，國內(nèi)對(duì)冠脈介入病人未有報(bào)告。第16號(hào)外顯子上相鄰位點(diǎn)存在V771M、T774P、K776N 3個(gè)SNP位點(diǎn)，較為特殊。因此我們對(duì)第7號(hào)外顯子以及第16號(hào)外顯子上SNP位點(diǎn)進(jìn)行重點(diǎn)研究，確定它們的發(fā)生率以及各基因型的分布情況，明確它們與血脂水平以及冠心病的發(fā)生、冠脈病變的范圍和嚴(yán)重程度的關(guān)系，以探討它們影響AS和CAD的可能機(jī)制。 三．方法
[Abstract]:I. background to the study. The ATP binding cassette transporter A1G ABCA1) gene is a member of the ABCA subfamily. Since Bodzioch M et al first identified the mutation of ABCA1 gene as the etiology of Tangier disease, it has been known that ABCA1 mediates intracellular cholesterol and phospholipid efflux. It plays an important role in the initiation of cholesterol reverse transport (RCT) and high density lipoprotein (HDL) production. It is the rate-limiting gene of RCT, and is closely related to the occurrence of atherosclerosis and coronary heart disease (CAD). The single nucleotide polymorphism of ABCA1 gene is widespread. So far, more than 90 disease-related ABCA1 gene mutations or SNP loci have been found, most of which are located in the coding region of the gene. It plays an important role in controlling the expression of ABCA1 gene, regulating the level of blood lipids and leading to the occurrence of as and CAD. However, the distribution and mechanism of most of these SNP are still unclear. This is a hot spot of life science research at home and abroad. II. Purpose of research. The ABCA1 gene has 50 exons. Our team screened 50 exon SNP loci (I was responsible for exon 19-34 to identify new SNP and determine the distribution of SNP loci in Han Chinese. Exon 7 R219K loci are known. The incidence of ABCA1 gene SNPs was the first. There were 3 SNP loci on the adjacent site of V771MN T774P#en0# K776N on exon 16 in China. Therefore, we focused on the SNP loci in exon 7 and exon 16. In order to explore the possible mechanism of their influence on as and CAD, the incidence rate and the distribution of each genotype were determined, and the relationship between them and the level of blood lipid, the occurrence of coronary heart disease, the extent and severity of coronary artery disease were determined in order to explore the possible mechanism of their influence on as and CAD. III. Methodology
【學(xué)位授予單位】：第一軍醫(yī)大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2006
【分類號(hào)】：R346

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