臺灣博碩士論文加值系統

微衛星DNA在多細胞生物的染色體均被發現。微衛星DNA（microsatellie DNA），亦被稱為簡單重覆序列(simple tandem repeats)。重複單元長度1~6 bp，重複次數約5∼100次。隨機散佈於基因組中，也常聚集於轉錄區。人類Y染色體上有六千萬個鹼基配對，其中大部分是無用的重複性序列，具有功能的基因不多。迄今，尚未有學者針對Y染色體雙核甘酸重複序列的分布、出現頻率進行詳盡分析與探討。
本研究經由GCG程式套組協助，搜索Genbank中人類Y染色體之DNA序列，將此染色體之雙核甘酸重複序列進行分析，探討此染色體雙核甘酸重複序列之出現頻率、分佈情況、滑脫率、覆蓋率及分佈之距離。結果顯示，Y染色體雙核甘酸重複序列之總出現頻率可明顯分為三群AA、TT、AT出現頻率頻繁，歸納為第一群，約19％∼24％；AC、AG、TC、TG出現頻率次之，約6％∼9％，歸為第二群；CG、CC、GG出現頻率最少，小於1％。藉由馬可夫鏈模式推算雙核甘酸重複序列之滑脫率，依次為TG＞AC＞AT＞TC＞TT＞AG ＞AA＞CG＞GG＞CC。分析雙核甘酸重複序列之相對距離方面，也可分為三類，第一類：AA、TT、TC、TG（最遠相對距離可至200 kb）；第二類：AC、AG、AT（最遠相對距離可至200 kb∼300 kb）；第三類則為CC、GG、CG（最遠相對距離至可4000 kb）。與第21、22對染色體比較，發現雙核甘酸重複序列之出現頻率、分佈情況、滑脫率及覆蓋率之分析，在三對染色體之結果皆很相似。經由分析，發現此三對染色體雙核甘酸重複序列在出現頻率、分佈具有一定程度之特定性及規律性。希望此三對染色體雙核甘酸重複序列之初步研究，將有助於後來研究者對雙核甘酸重複序列做更深入的探討。

Microsatellites are simple tandem repeats that consist of multiple copies of a tract with one to six nucleotides per repeating unit. They are widely dispersed in the genome and known to relate to some genetic diseases. Polymorphic Y-chromosome-specific microsatellites are becoming increasingly used in evolutionary and forensic studies. By using the Genetics Computing Group software, we examined the distribution of dinucleotide repeats in human chromosome Y. The frequencies of dinucleotide repeats in human chromosome Y could be divided into three groups with AA/TT/AT, AC/AG/TC/TG, and CG. The maximum lengths of dinucleotide repeats are significantly different in chromosome Y. The coverage of dinucleotide repeats unit AT (0.238%) was the most abundance, AC/AG/TC/TG was the second, and CG was the less. According to the maximum distance between each dinucleotide repeat in human chromosome Y, we could group the dinucleotide repeats into three types as AA/TT/TC/TG(200Kb), AC/AG/AT(200Kb∼300Kb), CC/GG/CG(4000kb). We used the Markov chain model to compute the slippage rate of dinucleotide repeats in the different repeats. The results indicated that dinucleotide slippage rate of TG （1×10-6） was higher than both AG/TC/ AT(1×10-7), and CG(1×10-8). The total average slippage rate was 1×10-7 in chromosome Y. In addition, we compare the frequency, the maximum length, the slippage rate, the coverage and the distance of dinucleotide repeats in human chromosome Y, 21 and 22. The partterns of each event were similar in chromosome Y, 21 and 22. Based on the results of the frequency, the length, the slippage rate, the coverage and the distance of dinucleotide repeats, human chromosome Y shared similar characteristics with human chromosome 21 and 22.

中文摘要...01
英文摘要...03
目錄...06
表目錄...09
圖目錄...10
第一篇文獻探討...16
第一章重複序列...16
第二章微衛星DNA...18
第三章微衛星DNA之不穩定現象...18
第四章微衛星DNA應用...21
第五章雙核甘酸重複序列...21
第二篇人類染色體...23
第一章人類Y染色體...23
第二章人類第21對染色體...24
第三章人類第22 對染色體...25
第三篇人類基因組分析計畫...27
第一章人類基因組...27
第二章基因組與生物資...27
第四篇研究目的...29
第五篇材料與方法...30
第一章材料...30
第二章分析Y 染色體雙核甘酸重複序列之研究方法與步驟...30
第三章估算Y 染色體雙核甘酸重複序列滑脫率之研究方法...33
第六篇Y染色體雙核甘酸重複序列分析結果...35
第一章Y染色體雙核甘酸重複序列之出現頻率...35
第二章人類Y染色體之滑脫率及最佳分佈模式...35
第三章人類Y 染色體雙核甘酸重複序列之覆蓋率...37
第四章Y 染色體雙核甘酸重複序列之間距離...37
第七篇比較人類Y、第21 及22 對染色體雙核甘酸重複序列之分析結果...38
第一章比較Y、第21 及22 對雙核甘酸重複序列之出現頻率...38
第二章比較Y、第21 及22 對雙核甘酸重複序列之滑脫率及最佳模式...39
第三章比較Y、第21 及22 對雙核甘酸重複序列之覆...39
第四章比較Y、第21 及22 對雙核甘酸重複序列之相對距離...40
第八篇討論...41
第九篇結論...44
參考文獻...75
附錄

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