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| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 華筱玲(Hsiao-Lin Hwa) | |
| dc.contributor.author | Siao-Wen Chen | en |
| dc.contributor.author | 陳曉雯 | zh_TW |
| dc.date.accessioned | 2021-06-08T00:50:58Z | - |
| dc.date.copyright | 2015-09-25 | |
| dc.date.issued | 2015 | |
| dc.date.submitted | 2015-07-01 | |
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| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/18094 | - |
| dc.description.abstract | 在法醫學上進行人別鑑定之技術，目前是以PCR為基礎的短相連重複序列(STR)為主，但是STR對於分析腐敗DNA(degraded DNA)檢體的能力有限。而目前許多研究指出單核苷酸多型性(SNP)分析可以有效使用於腐敗DNA型別檢測，因此本研究目的主要是要設計一套適合應用於腐敗檢體的SNP分析套組
本研究收集16個台灣漢人血液檢體以及17個台灣漢人胎盤組織檢體(包括2個家族的3個3人親子組及1個2人親子組)，萃取DNA後使用DNase I酵素法作用30及60分鐘，將DNA進行裂解以模擬法醫檢體腐敗DNA的片段長度(<100bp)，使用即時定量聚合酶連鎖反應(qPCR)進行DNA定量，並以定量結果進行STR基因座分析，分析結果若STR圖形訊號由短片段至長片段逐漸遞減，甚至是長片段基因座消失，則確定其為裂解DNA檢體之STR圖形，且無法完整得知STR基因座之訊息。另以電泳生物分析(Bioanalyzer)來觀察裂解DNA片段分布，發現本研究所製作之裂解DNA片段分布在15bp以下，再把這些確定為裂解DNA之檢體，使用產物長度為60~100bp的145個體染色體SNP點位以基質輔助雷射脫附游離飛行時間質譜儀(MALDI–TOF)的方法進行SNP分析。 研究結果顯示此145個SNP點位在30分鐘及60分鐘之裂解DNA檢體平均成功率各為46%以及60%，其中51個點位在30分鐘及60分鐘裂解檢體之成功分析率達50%以上，可做裂解檢體之分析。145個SNP點位於研究族群中的哈溫平衡值皆無顯著差異，而鑑別力(power of discrimination)可達0.9999999999，累積三人排除率(CPEtrio)達0.9999999999，累積兩人排除率(CPEduo)則是達到0.999999。以研究族群中的家族實例計算，無法以STR分析之裂解檢體可以使用SNP分析進行親子鑑定。我們的結論是，本研究所使用的SNP系統能分析裂解DNA檢體的SNP型別及協助人別鑑定。 | zh_TW |
| dc.description.abstract | Forensic genetics has been currently using PCR based Short Tandem Repeat (STR) polymorphisms. However, STR can be non-informative when DNA samples are degraded. Recent advances in single nucleotide polymorphisms (SNPs) research have raised the possibility that the SNP markers could replace the STR in analyzing degraded DNA samples. The purpose of this study was to develope an effective SNPs panel to genotype degraded DNA samples.
We collected 16 blood samples and 17 pacenta samples of Han Taiwanese (including 2 families with 3 trio and 1 duo sets). DNA was extracted and degraded to <100bp by DNase I treatment. Then qPCR quantification and STR genotyping were performed. The STR typing of degraded DNA showed gradually degradation signal pattern from shorter size STR loci to longer size, eventhough disappeared. The DNA fragments distribution was analyzed using Bioanalyzer and the length of DNA fragments revealed below 15 bp. Finally, a panel including 145 autosomal SNP loci was used to analyze degraded DNA by matrix-assisted laser desorption/ionization time of flight mass spectrometer (MALDI-TOF MS). The target amplicons for each 145 SNPs arranged from 60 bp to 100 bp. Among the 145 SNP loci, 46% and 60% of genotypes could be successfully identified in 30 min and 60 min degeaded DNA samples. There were 51 SNP loci with detection rate above 50% for both 30min and 60min degraded samples. The total power of discrimination (Pd) was 0.9999999999, the cumulative probability of exclusion (CPEtrio) of trios-testing was 0.9999999999, and the cumulative probability of exclusion of duo-testing (CPEduo) was 0.999999. Compared to STR loci, these SNP loci offered a more informative analysis for degraded DNA in real parentage testing. In conclusion, this 145 SNP loci panel can be helpful in the analysis of degraded DNA and individual identification. | en |
| dc.description.provenance | Made available in DSpace on 2021-06-08T00:50:58Z (GMT). No. of bitstreams: 1 ntu-104-R99452004-1.pdf: 2482864 bytes, checksum: 723e026d7d04523f7b594c31183048f9 (MD5) Previous issue date: 2015 | en |
| dc.description.tableofcontents | 國立臺灣大學碩士學位論文 口試委員會審定書 I
致謝 II 中文摘要 III Abstract V 第一章 序言 1 第二章 研究目的與文獻回顧 2 第一節 法醫學人別鑑定 2 一、 司法分子生物學簡介 2 二、 基因變異性以及重複序列DNA 2 三、 短相連重複序列 (Short tandem repeat, STR) 3 四、 單核苷酸多型性 (Single nucleotide polymorphism, SNP) 4 第二節 人體死亡後DNA的改變 5 一、 DNA之基本結構 5 二、 影響DNA裂解之因素 6 三、 古老DNA 7 第三節 裂解DNA (Degraded DNA) 8 一、 製作裂解DNA之方法 8 二、 法醫腐敗檢體之人別鑑定 12 第四節 研究目的 13 第三章 實驗材料與方法 14 第一節 實驗設計 14 一、 實驗設計流程 14 第二節 實驗材料 14 一、 周邊血液檢體 14 二、 胎盤組織檢體 15 第三節 實驗方法 15 一、 裂解DNA檢體製作 15 二、 裂解DNA基因分析 17 第四節 資料分析及統計 20 一、 短相連重複序列(STR)資料分析 20 二、 單核苷酸多型性序列(SNP)資料分析 21 三、 統計分析 22 第四章 實驗結果 23 第一節 DNA萃取以及定量結果 23 第二節 製作裂解DNA 23 第三節 DNA片段分佈分析結果 24 第四節 短相連重複序列(STR)基因分析 24 第五節 單核苷酸多型性基因(SNP)分析 27 第六節 親子鑑定實例分析比較 31 第五章 討論 33 第一節 DNA萃取以及定量結果 33 第二節 製作裂解DNA及其定量 35 第三節 DNA片段分析結果 35 第四節 短相連重複序列(STR)基因分析 36 第五節 單核苷酸多型性基因(SNP)分析 37 第六節 親子鑑定實例分析比較 41 第七節 研究限制討論 41 第六章 結論與展望 44 參考文獻 45 | |
| dc.language.iso | zh-TW | |
| dc.title | 以單核苷酸多型性之分析應用於裂解DNA人別鑑定之研究 | zh_TW |
| dc.title | Using Single Nucleotide Polymorphism for Individual Identification of Degraded Human DNA | en |
| dc.type | Thesis | |
| dc.date.schoolyear | 103-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.oralexamcommittee | 李俊億(Chun-I Lee),謝幸媚(Hsing-Mei Hsieh) | |
| dc.subject.keyword | 人別鑑定,法醫DNA型別鑑定,短相連重複序列,單核?酸多型性,裂解DNA, | zh_TW |
| dc.subject.keyword | Individual identification,forensic DNA typing,short tandem repeat,single nucleotide polymorphism,degraded DNA, | en |
| dc.relation.page | 105 | |
| dc.rights.note | 未授權 | |
| dc.date.accepted | 2015-07-01 | |
| 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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