【摘要】：甘露聚糖結(jié)合凝集素(mannan-binding lectin,MBL)系C型凝集素超家族中膠凝素家族的成員,是機(jī)體天然免疫系統(tǒng)中的關(guān)鍵分子。MBL可選擇性識(shí)別多種病原體表面以甘露糖或N-乙酰氨基葡萄糖等為末端糖基的糖結(jié)構(gòu),通過(guò)激活補(bǔ)體凝集素途徑和調(diào)理吞噬作用清除病原體及受感染細(xì)胞。 血清MBL水平低下與許多感染性疾病及自身免疫病等有關(guān),而這主要與MBL基因的6個(gè)單核苷酸多態(tài)性(single nueleotide polymorphism,SNP)位點(diǎn)有關(guān),它們分別是啟動(dòng)子區(qū)-550(G/C)、-221(G/C)、+4(C/T)等3個(gè)位點(diǎn)(分別稱為等位基因H/L、X/Y和P/Q)和結(jié)構(gòu)基因第一外顯子CGT52TGT、GGC54GAC、GGA57GAA等3個(gè)點(diǎn)突變(分別稱為D、B、C,野生型為A)。這6個(gè)SNP位點(diǎn)隨機(jī)組合應(yīng)該存在2~6(64)種單倍型,但由于結(jié)構(gòu)基因SNP位點(diǎn)與不同的啟動(dòng)子單倍型連鎖不平衡,至今只檢測(cè)到7種常見的單倍型,分別是HYPA、LXPA、LYQA、LYPA、LYFB、HYPD及LYQC。不同的啟動(dòng)子基因型調(diào)控MBL基因轉(zhuǎn)錄水平,結(jié)合結(jié)構(gòu)基因的不同突變體,使得不同種族人群間,甚至同一種族不同個(gè)體間的MBL血清水平相差很大。 我國(guó)是一個(gè)多民族人口大國(guó),有必要對(duì)各民族人群MBL基因的多態(tài)性情況進(jìn)行調(diào)查,以便為我國(guó)MBL缺損的防治研究提供決策依據(jù)。鑒于此,我們對(duì)佤族、白族、彝族及哈尼族人群MBL基因主要SNP位點(diǎn)進(jìn)行了等位基因及其單倍型與基因型的研究。有關(guān)MBL基因SNP的研究對(duì)MBL的基礎(chǔ)研究和臨床實(shí)踐都有重要意義,同時(shí)為醫(yī)學(xué)的發(fā)展趨勢(shì)——個(gè)體化治療奠定基礎(chǔ)。 第1章 MBL基因7種常見單倍型標(biāo)準(zhǔn)質(zhì)粒的構(gòu)建 目的:
[Abstract]:Mannan-binding lectin (mannan-binding lectin,MBL) is a member of the C-type lectin superfamily. MBL is a key molecule in the innate immune system of the body. MBL can selectively recognize sugar structures with mannose or N-acetylglucosamine as the terminal glycosyl groups on the surface of many pathogens. Scavenging pathogens and infected cells by activating complement lectin pathway and regulating phagocytosis. The low level of serum MBL is related to many infectious diseases and autoimmune diseases, and it is mainly related to the six single nucleotide polymorphism (single nueleotide polymorphism,SNP) sites of MBL gene, which are promoter region -550 (G / C). -221 (G / C), 4 (C / T) and 3 loci (called alleles H / L X / Y and P / Q) and structural gene exon 1 (CGT52TGT,GGC54GAC,GGA57GAA) respectively. Wild type is A). The random combinations of 6 SNP loci should have 2n6 (64) haplotypes. However, due to the linkage disequilibrium between the structural gene SNP loci and different promoter haplotypes, only seven common haplotypes, HYPA,LXPA,LYQA,LYPA,LYFB, have been detected so far. HYPD and LYQC. Different promoter genotypes regulate the transcription level of MBL gene and combine with different mutants of structural genes, which makes the MBL serum levels vary greatly among different ethnic groups, even among different individuals of the same race. China is a large multi-ethnic population, it is necessary to investigate the polymorphism of MBL gene in different ethnic groups, in order to provide a decision basis for the study of the prevention and treatment of MBL defects in China. In view of this, we studied the alleles, haplotypes and genotypes of the main SNP loci of the MBL gene in WA, Bai, Yi and Hani populations. The study on SNP of MBL gene is of great significance to the basic research and clinical practice of MBL. It also lays a foundation for the development trend of medicine, individualized therapy. Chapter 1: construction of seven common haplotype standard plasmids of MBL gene:
【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】：2005
【分類號(hào)】：R392

【引證文獻(xiàn)】

相關(guān)碩士學(xué)位論文 前1條

1 杜芳芳;大口黑鱸POU1F1，，PSSSNPs位點(diǎn)的篩選及與生長(zhǎng)的關(guān)聯(lián)性分析[D];上海海洋大學(xué);2011年

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