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研究生:楊惠櫻
研究生(外文):Hui-Ying Yang
論文名稱:人類第二十一對染色體三核甘酸重複序列之分布及頻率
論文名稱(外文):Localization and frequency of trinucleotide repeats in human chromosome 21
指導教授:陳啟清陳啟清引用關係
指導教授(外文):Chi-Ching Chen
學位類別:碩士
校院名稱:國立成功大學
系所名稱:生物學系碩博士班
學門:生命科學學門
學類:生物學類
論文種類:學術論文
論文出版年:2002
畢業學年度:90
語文別:中文
論文頁數:78
中文關鍵詞:第二十一對染色體微衛星DNA三核甘酸重複序列
外文關鍵詞:trinucleotide repeatsmicrosatellite DNAhuman chromosome 21
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真核生物的DNA序列上帶有許多重複性的序列,這些序列可能位於基因內(coding region)或基因外(noncoding region)的位置,在此主要探討微衛星DNA(microsatellite DNA),它的重複單元僅含1至10bp,研究發現,微衛星位於編碼區(coding region)的上游區(upstream region),扮演調控基因重要的因子。因此,本研究經由主要探討人類第二十一對染色體DNA序列(35804945bp),其微衛星DNA之三核甘酸重複序列頻率的分布、位於基因內及基因外的比例與覆蓋率、相對距離及滑脫率。結果發現,重複次數出現的頻率大致上可分為四大類,第一類為AAT/TAT(2000~3000),第二類為CAC/GTG(1500~2000次),第三類為AAG/CTC/TTC/GAG/AAC/CAG/TTG/CTG/CAT/GAT(500~1500次),第四類為TAC/TAG/CCG/GCG/GAC/GTC(1~500次)。出現在第二十一對染色體的三核甘酸重複序列位於基因區內占三核甘酸重複序列總出現率的16.33%,位於非基因區內占三核甘酸重複序列總出現率的83.67%,全部三核甘酸重複序列占全序列的0.487%。且依相對距離在50Kb內的出現率的百分比的大小可歸為四類,第一類為AAT、TAT、CAC、GTG、CTC、TTC、AAG、GAG及CAG,第二類為CAG、CTG、AAC、TTG、CAT及GAT,第三類為CCG、GCG及TAC,第四類為GAC及GTC。利用馬可夫鏈的模式(Markov chain model),間接來推測微衛星長度因DNA聚合酵素的滑脫導致其長度改變的機制,結果發現,以滑脫率的大小依序排列,分別為TAT>CAC>AAT>AAC>GAT>GAG>GCG(1.3109E-07)、CTC>GTG>CAT>TTC>TTG>AAG>CTG>CCG>CAG>TAC>TAG。經由研究結果發現,三核甘酸重複序列出現的頻率愈高,其發生DNA聚合酶滑脫率的情形也愈高。希望本研究的結果能夠提供相關研究作為應用及參考。
Microsatellite is a short tandemly repeated sequences and widely distributed throughout eukaryoties genome. The repeat unit is in a range from one to ten base pairs and polymorphism, so that had been used for genetic markers, population genetics, and gene mapping. Microsatellite instability arised because of unequal crossing-over (UCO) or slip-strand mispairing (SSM) errors during DNA replication. Trinucleotide repeats instability is associated with hereditary diseases and certain types of cancer. Here, we analysed frequency, maximum length, total frequency, best-fit model, distance, coverage and the slippage rate of trinucleotide repeats in the human chromosome 21 available in the GenBank. By sequence analysis, frequencies of the trinucleotide repeats in the human chromosome 21 divided into four groups with AAT/TAT, CAC/GTG, AG/CTC/TTC/GAG/AAC/CAG/TTG/CTG/CAT/GAT and TAC/TAG/ CCG/GCG/GAC/GTC in a serial ranges of 2000 to 3000, 1500 to 2000, 500 to 1500, 1 to 500, respectively. Distance of trinucleotide repeats that mostly located in 50 kb could be divided four groups with AAT/TAT/CAC/GTG/CTC/TTC/AAG/GAG/CAG, CAG/CTG/AAC/ TTG/CAT/GAT, CCG/GCG/TAC and GAC/GTC. It is interesting that repeat number of CAC is 43 times which is the maximum length in the trinucleotide repeats length. Total trinucleotide repeats coverage in human chromosome 21 is 16.33%. We utilize Markov chain model to compute the slippage rate of trinucleotide repeatsthat was in the order of TAT>CAC>AAT>AAC>GAT>GAG>GCG>CTC>GTG>CAT>TTC>TTG> AAG>CTG>CCG>CAG>TAC>TAG.. In conclusion , we found the most high frequency, maximum length, slippage rate of trinucleotide repeats are AAT, TAT and CAC in order.
中文摘要………………………………………………………………..i
英文摘要……………………………………………………………….iii
致謝……………………………………………………………………..v
目錄……………………………………………………………………..vi
圖目錄………………………………………………………………….viii
表目錄………………………………………………………………….xiv
第一章 文獻參考……………………………………………….……….1
第一節 重複序列的分類………………………………………………1
第二節 微衛星之簡介及功能…………………………………………2
第三節 微衛星重複序列的應用………………………………………4
第四節 微衛星三核甘酸重複序列……………………………………5
第五節 人類第二十一對染色體………………………………………7
第六節 人類基因組學…………………………………………………9
第七節 後基因體分析…………………………………..……………10
第二章 研究目的………………………………………………………12
第三章 研究材料、方法與步驟………………………………………13
第四章 結果……………………………………………………………15
第五章 討論……………………………………………………………19
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