臺灣博碩士論文加值系統

微衛星DNA為一簡單重複序列，由一至六個鹼基重複多次序列片段所組成。廣泛分佈於真核生物整個基因組中，具高度變異性，常應用於遺傳標記、基因定位及族群遺傳。本研究經由GCG程式套組協助，搜索GenBank中第二十二對染色體之DNA序列，分析三千四百六十九萬四千六百二十個鹼基對，探討雙核甘酸重複序列在此染色體中所出現的頻率、分佈情形、位於基因區與非基因區的含量及標訂標記。已經建立完整之第二十二對染色體雙核甘酸重複序列分佈圖譜，從資料結果顯示，總出現頻率可明顯分AA/TT；AT/AC/AG/TC/TG；CG/CC/GG三群；所有雙核甘酸重複序列大部分位於非基因區內（64％）；探討雙核甘酸重複序列之相對距離，各種組合之間距離分別如下：AA、TT集中於2Kb（60％），AT為800bp（52.6％），AC、TG為4kb（54.5％），AG、TC則集中於7kb（53％），CG、CC、GG分別於40kb（53.1％）、80kb（52.1％）、70kb（53.6％）三個相對距離，任何兩種組合之間距離大部分集中於600bp（53.9％），；利用馬可夫鏈模式求得滑脫率依次為AA＞TG＞AT＞TC＞CC＞AC＞AG＞TT＞CG＞GG，總滑脫率為0.2610-6；從2550個找尋的引子比對篩選出特定的35個標記，期望大家能對於人類第二十二對染色體及雙核甘酸重複序列有更進一步的瞭解，亦對未來學者的研究有所建樹。

Microsatellites are elements that comprise of multiple copies of a repeated unit in a range of from one to six base pairs. They are common and polymorphism in eukaryotic genomes. They have been used as genetic markers, gene mapping, and in population genetics.
We analyzed the frequency and the distribution, of dinucleotide repeats in the gene and identify markers of chromosome 22 （34694620bp） from samples in the GenBank. We constructed the complete dinucleotide repeat map and annotated the location with respect to total genes. In the dinucleotide repeat analysis, the total frequency of dinucleotide repeats in human chromosome 22 could be divided into three groups with AA/TT, AT/AC/AG/TC/TG, and CG/CC/GG. The distance between any two-dinucleotide repeats was in 600 base pairs range. The distances between each of dinucleotide repeats were AA/TT - 2Kb（60％）, AT - 800bp（52.6％）, AC/TG - 4kb（54.5％）, AG/TC - 7kb（53％）, and CG/CC/GG - 40kb（53.1％）/80kb（52.1％）/70kb（53.6％）, respectively. Based upon the Markov chain model, the slippage rates of dinucleotide repeats was in the order of AA＞TG＞AT＞TC＞CC＞AC＞AG＞TT＞CG＞GG and the slippage rate of total dinucleotide repeats was 0.2610-6.
In this work we report the development and characterization of 35-microsatellite marker for chromosome 22. Development was from sequence data to operationally useful loci. Primer sequences for these sets of 35 marker are made available. These markers will permit detailed studies in genome. The battery of microsatellite markers developed and characterized in this study opens a new perspective for the generation of fundamental genetic data for devising sound collection of markers in chromosome 22

中文摘要………………………………………………………………01
英文摘要………………………………………………………………02
致謝…………………………………………………………………….04
表目錄………………………………………………………………….05
圖目錄………………………………………………………………….06
目錄…………………………………………………………………….14
第一章 前言…………..………………………………………………16
第二章 文獻探討……………………………………………………..18
第一節 重複序列…………………………………………………..18
第一項 重複序列之簡介……………………………………...18
第二項 重複序列之不穩定性…………………………………20
第三項 重複序列與疾病之關係………………………………21
第四項 重複序列之應用………………………………………22
第二節 人類第二十二對染色體………………………………….23
第一項 人類第二十二對染色體之簡介………………………23
第二項 人類第二十二對染色體與疾病………………………24
第三節 生物資訊………………………………………………….25
第一項 生物資訊之簡介.……………………………………25
第二項 生物資訊之應用……………………..……………..26
第三章 材料與方法…………………………………………………..28
第一節 材料……………………………………………………….28
第一項 人類第二十二對染色體…………………………….28
第二項 程式軟體之介紹…………………………………….28
第二節 方法……………………………………………………….29
第一項 步驟……………………………………………………29
第二項 流程圖…………………………………………………30
第四章 結果與討論…………………………………………………..31
第一節 建構人類第二十二對染色體雙核甘酸重複序列之分佈圖..31
第二節 雙核甘酸重複序列存在基因區與非基因區之比較…….32
第三節 雙核甘酸重複序列出現之頻率………………………….33
第四節 雙核甘酸重複序列於人類第二十二對染色體之最佳模式...34
第五節 雙核甘酸重複序列於人類第二十二對染色體之覆蓋率…37
第六節 標訂標記………………………………………………….37
第七節 雙核甘酸重複序列之間距離…………………………….38
參考文獻………………………………………………………………80

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