【摘要】：甘露聚糖結合凝集素(mannan-binding lectin,MBL)系C型凝集素超家族中膠凝素家族的成員,是機體天然免疫系統(tǒng)中的關鍵分子。MBL可選擇性識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構,通過激活補體凝集素途徑和調理吞噬作用清除病原體及受感染細胞。 血清MBL水平低下與許多感染性疾病及自身免疫病等有關,而這主要與MBL基因的6個單核苷酸多態(tài)性(single nueleotide polymorphism,SNP)位點有關,它們分別是啟動子區(qū)-550(G/C)、-221(G/C)、+4(C/T)等3個位點(分別稱為等位基因H/L、X/Y和P/Q)和結構基因第一外顯子CGT52TGT、GGC54GAC、GGA57GAA等3個點突變(分別稱為D、B、C,野生型為A)。這6個SNP位點隨機組合應該存在2~6(64)種單倍型,但由于結構基因SNP位點與不同的啟動子單倍型連鎖不平衡,至今只檢測到7種常見的單倍型,分別是HYPA、LXPA、LYQA、LYPA、LYFB、HYPD及LYQC。不同的啟動子基因型調控MBL基因轉錄水平,結合結構基因的不同突變體,使得不同種族人群間,甚至同一種族不同個體間的MBL血清水平相差很大。 我國是一個多民族人口大國,有必要對各民族人群MBL基因的多態(tài)性情況進行調查,以便為我國MBL缺損的防治研究提供決策依據。鑒于此,我們對佤族、白族、彝族及哈尼族人群MBL基因主要SNP位點進行了等位基因及其單倍型與基因型的研究。有關MBL基因SNP的研究對MBL的基礎研究和臨床實踐都有重要意義,同時為醫(yī)學的發(fā)展趨勢——個體化治療奠定基礎。 第1章 MBL基因7種常見單倍型標準質粒的構建 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:
【學位授予單位】：第一軍醫(yī)大學
【學位級別】：碩士
【學位授予年份】：2005
【分類號】：R392

【引證文獻】

相關碩士學位論文 前1條

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

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