ABCA1基因全编码区SNP筛选及M233V新位点家系调查

发布时间：2018-01-14 13:30

本文关键词：ABCA1基因全编码区SNP筛选及M233V新位点家系调查　出处：《第一军医大学》2006年硕士论文　论文类型：学位论文

【摘要】：一．研究背景三磷酸腺苷结合盒转运体A1(ATP-binding cassette transporter A1，ABCA1)是一种整合膜蛋白，它以ATP为能源，在胆固醇逆转运(reverse cholesteroltransport，RCT)和高密度脂蛋白(high density lipoprotein，HDL)生成起始步骤中起重要作用，被称作RCT守门人。ABCA1基因的突变(Mutation)可以引起Tangier病(Tangier Disease，TD)和家族性低α脂蛋白血症(familialhypoalphalipoproteinemia，FHA)，而ABCA1基因的一些常见的单核苷酸多态性(single nucleotide polymorphism，SNP)对血脂水平、动脉粥样硬化(atherosclerosis，AS)的产生和冠心病(coronary artery disease，CAD)的严重程度均有很大的影响，不同SNP对ABCA1功能影响不同，同一SNP在不同人种中其作用也不同。多项研究表明，在欧美普通人群及冠心病人中部分SNP与血脂水平及冠脉狭窄程度相关。尤其值得注意的是，ABCA1基因编码区的SNP对控制ABCA1的表达起着重要作用，，不同的SNP对冠心病事件的影响不同。在不同种族中同一SNP分布频率不同，且对血脂水平和冠状动脉粥样硬化程度的影响也不尽相同。二．目的我们研究小组对中国汉族人群112例冠心病患者ABCA1基因编码区50个外显子(Exon)进行SNP及突变的检测，本人主要负责第1～18个外显子的检测研究，以求发现新的SNP或突变位点，并研究新的SNP位点和已报道的SNP位点对中国人群冠心病及血脂影响的意义。
[Abstract]:I. background to the study Adenosine triphosphate binding cassette transporter (A1AP-binding cassette transporter A1ABCA1) is a kind of integrin membrane protein. It uses ATP as a source of energy and reverses the transport of cholesterol to reverse cholesteroltransport. RCTs and HDLs play an important role in the initiation of high density lipoprotein (HDL) production. The mutation called RCT gatekeeper. ABCA1 gene mutation can cause Tangier disease Tangier Disease. TD) and familial hypothalamus hypolipidemia (FHA). Some common single nucleotide polymorphisms (SNPs) of the ABCA1 gene single nucleotide polymorphismSNPs have a positive effect on blood lipid levels. The production of atherosclerotic atherosclerosis and coronary artery disease in patients with coronary heart disease. Different SNP have different effects on the function of ABCA1, and the same SNP has different effects in different ethnic groups. Some of SNP in the general population and coronary heart disease patients in Europe and America are related to the level of blood lipid and the degree of coronary artery stenosis. SNP in the coding region of ABCA1 gene plays an important role in controlling the expression of ABCA1. Different SNP have different effects on coronary heart disease events. The distribution frequency of the same SNP is different in different ethnic groups. And the effect on the level of blood lipid and coronary atherosclerosis is also different. II. Purpose Our team detected SNP and mutations in 50 exons of ABCA1 gene coding region in 112 patients with coronary heart disease (CHD) in Chinese Han population. I was mainly responsible for the detection of exons 1 ~ 18 in order to find new SNP or mutation sites. The effects of new SNP loci and reported SNP loci on coronary heart disease and serum lipids in Chinese population were studied.
【学位授予单位】：第一军医大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R341

【参考文献】