维生素D受体（VDR）基因多态性与中国汉族人群哮喘的相关性研究
发布时间：2022-01-10 13:47
研究背景:支气管哮喘是一种常见的呼吸系统变态反应性疾病,是由免疫、遗传、环境以及其他因素共同作用而引起的多基因遗传病,遗传度为70%～80%,哮喘发病呈现多因性和异质性,并由不同的遗传机制控制。迄今为止,哮喘的临床预后仍然是不尽人意,因此,寻找哮喘的易感基因进而探索其发生的分子机制是防治哮喘的根本途径。维生素D受体（VDR）是介导1,25（OH）2D3发挥生物效应的核内生物大分子,为类固醇激素/甲状腺激素受体超家族的成员。1,25（OH）2D3激素信号分子在靶细胞与VDR结合形成激素-受体复合物,该复合物作用于靶基因上的特定DNA序列。从而对结构基因的表达产生调节作用。因此,VDR在本质上是一种配体依赖的核转录因子。它在维持机体钙、磷代谢,调节细胞增殖、分化等方面起重要作用,此外研究还证实,VDR基因可以通过调节T细胞的发育进而影响细胞因子的分泌。自1994年Morrison首次报道维生素D受体基因多态性与骨密度的关系以来,对VDR基因多态性与糖尿病、结核等疾病、骨代谢、生长发育相关性的研究,一直是...
【文章来源】：山东大学山东省 211工程院校 985工程院校 教育部直属院校
【文章页数】：60 页
【学位级别】：硕士
【文章目录】：
English Abstract
Chinese Abstract
List of Abbreviations
List of Tables
List of Figures
Chapter 1:General Introduction
1.1 Asthma and its pathologic immune mechanisms
1.2 Nuclear Vitamin D Receptor
1.3 Regulation of the action of the VDR gene
1.4 VDR and immunity
1.5 Asthma and VDR polymorphisms
Chapter 2:Motivation,Hypothesis and Objectives
2.1 Motivation
2.2 Hypothesis
2.3 Objectives
Chapter 3:Material and Methods
3.1 Study Population
3.2 Preparation of samples
3.2.1 DNA Extraction
3.2.2 DNA Quantification and Quality Analysis
3.3 SNPs Selection
3.3.1 Coding Polymorphisms
3.3.2 Intronic Polymorphisms
3.4 Genotyping
3.4.1 Primer Design
3.4.2 Polymerase Chain Reaction(PCR)
3.4.3 Restriction fragment-length Polymorphisms Methood(RFLP)
3.5 Statistical Analysis
3.5.1 Genotypic and Allelic frequencies Calculus
3.5.2 Hardy-Weinberg Equilibrium
3.5.3 Genotypic and Allelic Association Analysis
3.5.4 Linkage Disequilibrium and Haplotypes structure
3.5.5 Sample size calculus
Chapter 4:Results
4.1 SNPs Genotyping
4.2 Hardy-Weinberg Equilibrium Assumption
4.3 Association analysis between VDR Genetic Variants and Asthma
4.4 The Strong association of ApaⅠ marker
4.5 LD Measure and Haplotypes Analysis
Chapter 5:Discussion
5.1 The selection of VDR gene as a candidate gene for this study
5.2 The significant association found with VDR ApaⅠ polymorphism
5.3 Principal other polymorphisms of VDR gene and their functionality
Chapter 6:Conclusion
6 General conclusion
Referenees
Acknowledgement
Appendix
学位论文评阅及答辩情况表
本文编号：3580819
【文章来源】：山东大学山东省 211工程院校 985工程院校 教育部直属院校
【文章页数】：60 页
【学位级别】：硕士
【文章目录】：
English Abstract
Chinese Abstract
List of Abbreviations
List of Tables
List of Figures
Chapter 1:General Introduction
1.1 Asthma and its pathologic immune mechanisms
1.2 Nuclear Vitamin D Receptor
1.3 Regulation of the action of the VDR gene
1.4 VDR and immunity
1.5 Asthma and VDR polymorphisms
Chapter 2:Motivation,Hypothesis and Objectives
2.1 Motivation
2.2 Hypothesis
2.3 Objectives
Chapter 3:Material and Methods
3.1 Study Population
3.2 Preparation of samples
3.2.1 DNA Extraction
3.2.2 DNA Quantification and Quality Analysis
3.3 SNPs Selection
3.3.1 Coding Polymorphisms
3.3.2 Intronic Polymorphisms
3.4 Genotyping
3.4.1 Primer Design
3.4.2 Polymerase Chain Reaction(PCR)
3.4.3 Restriction fragment-length Polymorphisms Methood(RFLP)
3.5 Statistical Analysis
3.5.1 Genotypic and Allelic frequencies Calculus
3.5.2 Hardy-Weinberg Equilibrium
3.5.3 Genotypic and Allelic Association Analysis
3.5.4 Linkage Disequilibrium and Haplotypes structure
3.5.5 Sample size calculus
Chapter 4:Results
4.1 SNPs Genotyping
4.2 Hardy-Weinberg Equilibrium Assumption
4.3 Association analysis between VDR Genetic Variants and Asthma
4.4 The Strong association of ApaⅠ marker
4.5 LD Measure and Haplotypes Analysis
Chapter 5:Discussion
5.1 The selection of VDR gene as a candidate gene for this study
5.2 The significant association found with VDR ApaⅠ polymorphism
5.3 Principal other polymorphisms of VDR gene and their functionality
Chapter 6:Conclusion
6 General conclusion
Referenees
Acknowledgement
Appendix
学位论文评阅及答辩情况表
本文编号：3580819
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