遺傳疾病相關重複性序列之整合性分析工具

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陳明佑(Ming-Yu Chen) 查詢紙本館藏

畢業系所

資訊工程學系

論文名稱

遺傳疾病相關重複性序列之整合性分析工具
(An Integrated Tool for Investigating Genetic Disorder-Relevant Tandem Repeats in Human Genome)

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摘要(中)

連續性重複序列(Tandem Repeats)與人類的疾病有所關聯，而且在演化和調控過程中都扮演重要的角色。當發現遺傳疾病出現在病人身上，遺傳疾病的研究專家也許會對特定條件的連續性重複序列感興趣，接著設計引子(Primer)來做實驗並驗證其假設。此研究的目的在於整合遺傳疾病相關資訊，並提供遺傳疾病專家一個快速整合之分析平台。一方面整合人類基因體全序列、基因資訊、遺傳疾病資訊與連續性重複序列之資訊；另一方面建構一個以網路為介面的工具，幫助專家快速搜尋相關遺傳疾病之基因資訊，提供引子協助偵測遺傳疾病，加速實驗與鑑定之流程。我們設計出容易使用的介面，並整合了對研究疾病有關的資訊在此工具上。在此研究中，我們先在人類基因體上定出連續性重複序列，並整合相關的基因資訊，再根據OMIM資料庫上記錄之疾病和基因的關係，展示出可能和疾病有關的連續性重複序列，並提供相關的引子之設計。

摘要(英)

Tandem repeats (TRs) are associated with human inherited diseases, and play a role in evolution and are important in regulatory processes. Experts who are researching in genetic disorders may be interested in TRs with particular limits, and they will design primer sequence for experiment later. To integrate the information about human genetic disorders, and to provide an efficient tool for observing the information about TRs and genetic disorders are the objectives of this study. The first objective is to establish a database which integrates gene information, TRs and OMIM data. Users can analyze genetic disorders efficiently with this tool. The second objective is to provide a primer design tool for identifying specific TRs. Users obtain interesting primers from specific disease features and experiment the patient’’s sample for verifying the suspect. This tool is designed with a user-friendly interface and integrated information for experts to analyze genetic disorders, such as the primer design. In this work, we have identified TRs in the complete human genome from the publicly available sequences and mapped to the genes located in. According to the relationship of genes and genetic disorders recorded by OMIM, the TRs which potentially relevant to the genetic disorders will be shown.

關鍵字(中)

★ 重複性序列
★ 遺傳疾病

關鍵字(英)

★ genetic disorder
★ heritable diseases
★ tandem repeats
★ inherited diseases

論文目次

Chapter 1 Introduction 1
1.1 Background 1
1.2 Motivation 3
1.3 Goal 3
Chapter 2 Related Works 5
2.1 Tandem Repeats Database and Finding Tools 5
2.2 Primer Design Tools 6
2.3 Disease Relative Databases and Genome Resources 7
2.4 Density and Distribution Analyses of Trinucleotide Microsatellites 8
Chapter 3 Materials and Methods 10
3.1 Materials 11
3.2 Data Processing 12
3.3 Web Interface Designing 15
Chapter 4 Results 17
4.1 About the Tandem Repeats Sites 17
4.1.1 Distribution of tri-, tetra- and penta- nucleotide Tandem Repeats 17
4.2 Access the Database via Web Interface 22
4.2.1 Query of the System 22
4.2.2 Browse of the System 22
Chapter 5 Discussion 31
5.1 Distribution of trinucleotide, tetranucleotide and pentanucleotide tandem repeats 31
5.2 Future Work 32
References 34
Appendix A Distribution of Tandem Repeats in the Forms of Tetranucleotides and Pentancleotides A-1

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指導教授

洪炯宗(Jorng-Tzong Horng)

審核日期

2003-7-2

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