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完整後設資料紀錄
DC 欄位 | 值 | 語言 |
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dc.contributor.advisor | 李俊億 | |
dc.contributor.author | Keng-Hsien Liao | en |
dc.contributor.author | 廖耕賢 | zh_TW |
dc.date.accessioned | 2021-06-16T16:03:25Z | - |
dc.date.available | 2015-08-01 | |
dc.date.copyright | 2013-09-24 | |
dc.date.issued | 2013 | |
dc.date.submitted | 2013-07-02 | |
dc.identifier.citation | 1. R. Szibor, M. Krawczak, S. Hering, J. Edelmann, E. Kuhlisch, D. Krause, Use of X-linked markers for forensic purposes. Int J Legal Med, 2003. 117:67-74.
2. T. Hundertmark, S. Hering, J. Edelmann, C. Augustin, I. Plate, R. Szibor, The STR cluster DXS10148-DXS8378-DXS10135 provides a powerful tool for X-chrosomal haplotyping at Xp22. Int. J. Legal Med, 2008. 122:489-492. 3. M. Nothnagel, et al., Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome. Forensic Sci. Int. Genet, 2012. doi: 10.1016/j.fsigen.2012.02.015. 4. R. Nagaraja, S. MacMillan, C. Jones, M. Masisi, G. Pengue, G. Porta, S. Miao, A. Casamassimi, M. D’Urso, B. Brownstein, D. Schles-singer, Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24–q26 at 56-kb inter-STS resolution. Genomics, 1998. 52:247–266. 5. J. Ott, Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore. 6. R. Szibor, X-chromosomal markers: Past, present and future, Forensic Sci. Int. Genet, 2007. 1:93–99. 7. DD. Kosambi, The estimation of map distances from recombination values. Ann. Eugen, 1944. 12:172–75. 8. A. Lynn, T. Ashley, T. Hassold, Variation in human meiotic recombination. Annu Rev Genom Hum Genet, 2004. 5:317 – 349. 9. J. M. Butler, Fundamentals of Forensic DNA Typing. National Institute of Standards and Technology Gaithersburg, Maryland, USA. 10. HL. Hwa, YY. Chang, JC. Lee, HY. Yin, YH. Chen, LH. Tseng, YN. Su, TM. Ko, Thirteen X-chromosomal short tandem repeat loci multiplex data from Taiwanese. Int J Legal Med, 2009. 123:263–269. 11. R. Szibor, S. Hering, E. Kuhlisch, I. Plate, S. Demberger, M. Krawczak, J. Edelmann, Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing. Int. J. Legal Med, 2005. 119:363-369. 12. M. Krawczak, Kinship testing with X-chromosomal markers. Forensic Sci. Int. Genet, 2007. 1:111-114. 13. A.O. Tillmar, P. Mostad, T. Egeland, B. Lindbolm, G. Holmlund, K. Montelius, Analysis of linkage and linkage disequilibrium for eight X-STR markers. Forensic Sci. Int. Genet, 2008. 3:37-41. 14. D. becker, H. Rodig, C. Augustin, J. Edelmann, F. Gotz, S. Hering, R. Szibor, W. Brabetz, Population genetic evaluation of eight X-chromosomal short tandem repeat loci using Mantype Argus X-8 PCR amplification kit. Forensic Sci. Int. Genet, 2008. 2:69-74. 15. P. Nadia, G. Leonor, A. Antonio, X-cromosome markers in kinship testing: A generalisation of the IBD approach identifying situations ahere their contribution is crucial. Forensic Sci. Int. Genet, 2011. 5:27-32. 16. ChrX-STR.org 2.0, Calculate statistics for ChrX markers. http://www.chrx-str.org/ 17. S. Hering, J. Edelmann, C. Augustin, E. Kuhlisch, R, Szibor, Xchromosomal recombination – a family study analysing 39 STR markers in German three-generation pedigrees. Int. J. Legal Medicine, 2010. 124:483-491. 18. S. Hering, C. Augustin, J. Edelmann, M. Heidel, J. Dressler, H. Rodig, E. Kuhlisch, R. Szibor, DXS10079, DXS10074 and DXS10075 are STRs located within a 280-kb region of Xq12 and provide stable haplotypes useful for complex kinship cases. Int. J. Legal Medicine, 2006. 120:337-345. 19. MT. Ross et al., The DNA sequence of the human X chromosome. Nature, 2005 Mar 17;434(7031):325-37. 20. QL. Liu, DJ. Lu, WW. Wu, HL. Hao, YF. Chen, H. Zhao, Genetic analysis of the 10 ChrX STR loci in Chinese Han nationality from Guangdong province. Mol. Biol. Rep., 2011. 38:4879–4883 21. QL. Liu, DJ. Lu, XG. Li, H. Zhao, JM. Zhang, YK. Lai, YF. Chen, Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China. Int. J. Legal Medicine, 2011, 125:51–58 22. QL. Liu, H. Zhao, JD. Chen, XG. Wang, DJ. Lu, L. Quan, Development and population study of the 12 X-STR loci multiplexes PCR systems. Int. J. Legal Medicine, 2012. 126:665–670 23. BS. Weir, Genetic data analysis II, Sunderland, MA: Sinauer Associates, Inc (1996) 24. D. Desmarais et al., Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J. Forensic Sci., 1999. 43:1046–1049 | |
dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/62501 | - |
dc.description.abstract | X染色體短縱列重覆序列(X-STR)可以加強體染色體短縱列重覆序列(AS-STR)在人身鑑別和親緣鑑定之鑑別能力,近年來逐漸受到重視。在一些特殊情況,像是家族中缺少可進行比對的成員、近親亂倫、大災難時的人身比對,AS-STR可能面臨極限,無法解釋,此時便是X-STR的出場時機,幫助解決這些較複雜的情況。另外當基因發生突變,將導致鑑別力下降,也是常面臨的問題。
本研究選擇一個X-STR基因(locus)—DXS6807,於其上游70萬鹼基對,下游40萬鹼基對距離(physical distance)內,找出適合的十個STR基因進行分析。由於距離相近,所有STR互相連鎖,成為高變異的單倍型(haplotype),可以提供更高的鑑別力。 本研究新建立之十個STR基因,以DXS6807為中心,分別命名為DXS680701、DXS680702、DXS680703、DXS680704、DXS680705、DXS680706、DXS680707、DXS680708、DXS680709、DXS680710。所觀察到之對偶基因(allele)分別有11、27、8、17、7、9、4、8、7與13個,加上DXS6807本身有6個。理論上這十一組搭配會有450億個單倍型組合,但因為連鎖遺傳特性,其組合數量會遠低於此。本研究在130位不具親緣關係的男性身上,共發現129種的單倍型,顯示此組合具高鑑別力。 由彼此無親緣關係之279人(男性136,女性143人),經統計十個新X-STR的多型性指標(polymorphism information content, PIC),範圍介於0.461到0.883,與其他X-STR相比,具有高度變異性,即使單獨使用,也能發揮良好鑑別能力。由於將DXS6807也算在內的11組基因,兩兩配對都具有顯著的連鎖現象(linkage),因此基因型頻率應將11組基因視為一單倍型計算。依此數據顯示,增加連鎖STR基因可明顯提升原有STR基因之鑑別力。 由以上特性得知,同時鑑定新的和原來的STR基因,除了可以提高人別鑑定能力外,在親屬關係上,可以用來判斷當父母和子女的對偶基因型別不相符時,究竟是突變或非親緣所引起的差異。而形成的高變異單倍型,對於親緣關係較遠者,尤其是家族人員基因型資料有缺時,對實際應用判定也有很大的幫助。 | zh_TW |
dc.description.abstract | X chromosome short tandem repeat (X-STR), which is getting more attention in recent years, can enhance and compensate autosome short tandem repeat (AS-STR). In some special situations, such as deficiency paternity cases (kinship calculation with someone important losing), paternity testing in rape and incest cases, and identification in mass disasters, AS-STR may confront its limitation. When these occur, X-STR and other markers can be strong weapons to solve such tough problems. Besides, allele mutation is another big issue we might have when we analyze STR genotypes, and it will tremendously decrease the power of the method.
In our study, we chose DXS6708 as the anchor, and found 10 new STR markers which distributed over upstream 70 hundred thousand base pairs (bp) and downstream 40 hundred thousand bp. Because the distances between each markers are short, they are closely linked, and forming highly variable haplotypes, which have high discriminative power in identification and kinship calculation. Around DXS6807, the ten new STR marker were named: DXS680701, DXS680702, DXS680703, DXS680704, DXS680705, DXS680706, DXS680707, DXS680708, DXS680709, DXS680710. After screening our samples, the amount of alleles of each STR markers are 11, 27, 8, 17, 7, 9, 4, 8, 7, and 13, respectively. We also found 6 alleles in DXS6807, that it has one more allele than the commercial kit originally published. Theoretically, there should be more than 45 billion combinations of haplotypes. Because there are strong linkages between each markers, the amount of haplotype should be far more less the expected. There are 129 types of haplotypes in our 130 unrelated male samples, so these markers, as haplotypes, have high discriminative power in forensic application. The PIC (polymorphism information content) value of the ten X-STR markers ranges from 0.461 to 0.883, which have medium to high variation compared with other common used X-STR marker. The result of LOD score calculation indicated that there are strong linkage between each markers, so they should be looked as a haplotype to count and calculate the appearance frequency. According the haplotype types we observed, increasing the amount of linked STR markers can improve the power of identification and kinship calculation. In conclusion, simultaneously typing the common-used X-STRs and new linked X-STRs, can increase the power of regular identification and kinship calculation. In addition, when there are difference between parents and children, linked X-STR markers can help us differentiate from mutation or having no relationships. Because of high variation of haplotypes, linked X-STR markers can help in special cases such as deficiency paternity cases, paternity testing in rape and incest cases, and identification in mass disasters. | en |
dc.description.provenance | Made available in DSpace on 2021-06-16T16:03:25Z (GMT). No. of bitstreams: 1 ntu-102-R97452006-1.pdf: 1653538 bytes, checksum: fc47b5af019a81327403c44b2176f73a (MD5) Previous issue date: 2013 | en |
dc.description.tableofcontents | 口試委員審定書 i
誌謝 ii 中文摘要 iii 英文摘要 iv 第一章 諸論 1 第二章 文獻回顧 2 1. 短縱列重複序列(STR) 2 2. X染色體短縱列重複序列(ChrX STR) 2 3. X染色體圖譜(mapping) 3 4. 連鎖、連鎖不平衡(linkage and linkage disequilibrium)與單倍型 (haplotype) 5 5. STR基因的突變 5 6. 連鎖X-STR之研究情形 6 7. 本研究連鎖X-STR之特點 6 第三章 材料與方法 7 1. 採樣 7 2. DNA萃取 7 3. 尋找STR基因 7 4. 聚合酶連鎖反應 7 5. 定序 8 6. STR對偶基因型分析 8 7. 建立對偶基因型階梯標記與參考樣本圖譜 8 8. 統計分析 8 8.1. 基本統計計算 9 8.2. 連鎖分析 10 第四章 結果 11 1. 各基因之對偶基因組成結構與頻率 11 2. 參考樣本圖譜與建立對偶基因型階梯標記 11 3. 相關統計分析 11 3.1. 基本鑑識相關參數 11 3.2. 連鎖不平衡與連鎖關係 12 3.3. 單倍型之特異性 13 第五章 討論 14 1. 實驗誤差與應變方式 14 2. 本研究X-STR基因之鑑識(forensic)特性 14 3. X-STR基因間連鎖關係 15 3.1. 哈迪—溫伯格平衡與連鎖不平衡 15 3.2. 最大可能重組率與最大LOD score(maximum likelihood estimation of the recombination rate and the maximum LOD score) 16 4. 連鎖與單倍型在鑑識上的應用 18 5. 代償性標記的利用 19 第六章 未來展望 21 參考文獻 22 圖附錄 24 圖1:體染色體STR不易分析之非近親亂倫(non-inbred)親屬關係 25 圖2:體染色體STR不易分析之近親亂倫(inbred)親屬關係 26 圖3:X-STR於X染色體上之分布位置 27 圖4:K01 Positive control之本研究基因型結果 28 圖5:對偶基因階梯標記 29 表附錄 32 表1:本研究發現之X-STR引子序列 33 表2:本研究所觀察到的對偶基因型之序列結構、出現次數與頻率 34 表3:各基因之鑑識應用特性 38 表4:基因間連鎖不平衡(Linkage disequilibrium)關係矩陣 39 表5:各基因間連鎖程度(LOD score) 40 表6:各基因間重組率(theta值) 41 表7:本研究11個基因篩檢130個男性檢體所出現之單倍型 42 表8:本研究X-STR與常用X-STR鑑識應用參數比較表 48 表9:本研究11個X-STR兩兩基因間有意義之減數分裂數目 49 | |
dc.language.iso | zh-TW | |
dc.title | X染色體之連鎖短縱列重複序列對於親緣鑑定能力提升之探討 | zh_TW |
dc.title | Study of Linked X-STRs for Improving Forensic Kinship Identification | en |
dc.type | Thesis | |
dc.date.schoolyear | 101-2 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 蔡麗琴,謝幸媚 | |
dc.subject.keyword | X 染色體,短縱列重複序列,連鎖,連鎖不平衡,突變,親緣鑑定, | zh_TW |
dc.subject.keyword | X chromosome,short tandem repeat,linkage,linkage disequilibrium,mutation,kinship identification, | en |
dc.relation.page | 49 | |
dc.rights.note | 有償授權 | |
dc.date.accepted | 2013-07-02 | |
dc.contributor.author-college | 醫學院 | zh_TW |
dc.contributor.author-dept | 法醫學研究所 | zh_TW |
顯示於系所單位: | 法醫學科所 |
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