基于基因表达谱识别人类疾病相关基因和功能

发布时间：2018-05-19 16:53

本文选题：人类疾病 + 基因表达谱　；参考：《华中科技大学》2006年硕士论文

【摘要】： DNA微阵列已经在功能基因组学研究中获得了广泛的应用。在人类疾病研究领域,分离出在疾病状态下特异的基因表达变化具有十分重要的研究意义和实用价值。如何从众多差异表达基因中分离出那些跟疾病形成与发展相关的表达变化,已经成为疾病基因表达谱数据分析的一个关键问题,目前的差异分析方法还不能完全解决这个问题。为了解决这个问题,提出了系统的基因表达谱差异分析方法。通过整合基因水平差异分析和功能水平差异分析,从基因、功能两个层次上研究基因表达变化与疾病表型的关联。基因水平差异分析采用了修正的T检验算法来分析单个基因的表达变化,并用显著性p值来描述变化程度;功能水平差异分析采用了组合的S检验,通过整合基因的功能编目分类信息,利用单个基因差异表达的定量信息,研究一组功能相关基因的一致性表达变化。基于上述的分析策略,开发了基因表达谱差异分析软件MageKey(v1.0)。利用MageKey分析一组人类肌萎缩性脊髓侧索硬化症疾病的基因表达谱数据,测试结果显示了这种分析策略能够有效地建立疾病表型与基因和功能之间的关联。通过整合功能注释信息,从基因水平和功能水平研究基因表达变化与疾病表型的关联,这种分析策略能够快速地将疾病表型与功能失调及其表达变化关联起来,帮助生成一些关于疾病机制的生物学假设。同时本文的结果也说明了整合功能注释信息研究基因表达谱数据的重要性。
[Abstract]:DNA microarrays have been widely used in functional genomics research. In the field of human disease research, it is of great significance and practical value to separate the specific gene expression changes under the condition of disease. How to separate the expression changes related to the disease formation and development in the multiple differentially expressed genes Chemical analysis has become a key problem in data analysis of disease gene expression profiles. The current difference analysis method can not completely solve this problem.
In order to solve this problem, a systematic method of differential analysis of gene expression profiles is proposed. By integrating gene level difference analysis and functional level difference analysis, the relationship between gene expression changes and disease phenotype is studied from two levels of gene and function. Gene level difference analysis uses a modified T test algorithm to analyze single gene. The changes in expression were described and the degree of change was described with significant P values. The functional level difference analysis adopted a combined S test. By integrating the functional cataloging information of the gene and using quantitative information expressed by a single gene, the consistency of a group of functional genes was studied.
Based on the above analysis strategy, MageKey (v1.0) was developed for gene expression profile difference analysis software. The gene expression profiles of a group of human amyotrophic lateral sclerosis diseases were analyzed by MageKey. The results showed that the analysis strategy could effectively establish the association between the phenotype of the disease and the gene and function.
By integrating functional annotation information, the relationship between gene expression changes and disease phenotype is studied from gene level and functional level. This analysis strategy can quickly associate the disease phenotype with dysfunction and its expression changes and help to generate some biologic hypotheses about the disease mechanism. The results also illustrate the integration of the disease. Functional annotation information studies the importance of gene expression data.
【学位授予单位】：华中科技大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R394;R319

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