中国四个民族人群MBL基因SNP及其单倍型与基因型的研究
发布时间：2018-12-25 16:00
【摘要】：甘露聚糖结合凝集素(mannan-binding lectin,MBL)系C型凝集素超家族中胶凝素家族的成员,是机体天然免疫系统中的关键分子。MBL可选择性识别多种病原体表面以甘露糖或N-乙酰氨基葡萄糖等为末端糖基的糖结构,通过激活补体凝集素途径和调理吞噬作用清除病原体及受感染细胞。 血清MBL水平低下与许多感染性疾病及自身免疫病等有关,而这主要与MBL基因的6个单核苷酸多态性(single nueleotide polymorphism,SNP)位点有关,它们分别是启动子区-550(G/C)、-221(G/C)、+4(C/T)等3个位点(分别称为等位基因H/L、X/Y和P/Q)和结构基因第一外显子CGT52TGT、GGC54GAC、GGA57GAA等3个点突变(分别称为D、B、C,野生型为A)。这6个SNP位点随机组合应该存在2~6(64)种单倍型,但由于结构基因SNP位点与不同的启动子单倍型连锁不平衡,至今只检测到7种常见的单倍型,分别是HYPA、LXPA、LYQA、LYPA、LYFB、HYPD及LYQC。不同的启动子基因型调控MBL基因转录水平,结合结构基因的不同突变体,使得不同种族人群间,甚至同一种族不同个体间的MBL血清水平相差很大。 我国是一个多民族人口大国,有必要对各民族人群MBL基因的多态性情况进行调查,以便为我国MBL缺损的防治研究提供决策依据。鉴于此,我们对佤族、白族、彝族及哈尼族人群MBL基因主要SNP位点进行了等位基因及其单倍型与基因型的研究。有关MBL基因SNP的研究对MBL的基础研究和临床实践都有重要意义,同时为医学的发展趋势——个体化治疗奠定基础。 第1章 MBL基因7种常见单倍型标准质粒的构建 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:
【学位授予单位】：第一军医大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R392
本文编号：2391334
[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:
【学位授予单位】：第一军医大学
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R392
【引证文献】
相关硕士学位论文 前1条
1 杜芳芳;大口黑鲈POU1F1，，PSSSNPs位点的筛选及与生长的关联性分析[D];上海海洋大学;2011年
本文编号：2391334
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