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| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 簡穎秀(Yin-Hsiu Chien) | |
| dc.contributor.author | Yi-Lin Lin | en |
| dc.contributor.author | 林宜霖 | zh_TW |
| dc.date.accessioned | 2021-06-08T02:48:06Z | - |
| dc.date.copyright | 2017-09-08 | |
| dc.date.issued | 2017 | |
| dc.date.submitted | 2017-08-18 | |
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| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/20419 | - |
| dc.description.abstract | 背景
基因分析為遺傳疾病確認診斷的工具。毛細管電泳是基因序列分析的標準方法，雖然準確，但因為人力和時間的耗費，價格無法降低。最近由於基因醫學的快速進步，許多臨床上表現相似的遺傳疾病，已知是由多個基因引起。若使用毛細管電泳來分析，其價格依基因數目倍增，變得相當龐大。次世代基因分析用晶片的觀念，可同時分析許多的基因，甚至全基因 (whole genome) 分析都做得到。 目的 本研究擬建立遺傳疾病次世代基因分析套組，設計高達408個基因，包含肢帶肌肉失養症、Charcot Marie Tooth氏症 (CMT, 進行性神經性腓骨萎縮症)、Brugada 猝死症、努南症候群及溶小體儲積症等。可應用在多種疾病，符合臨床運用的目的。 方法 我們從受檢者血液中抽取DNA，標靶序列捕獲捕捉平台設計所含之基因的外顯子，聚焦在408個目標基因，再用生物資訊技術分析這些捕捉的序列。本研究先用四群疾病(肢帶肌肉失養症、CMT、神經肌肉疾病、成骨不全症∕Ehlers-Danlos症候群)共40名病人來測試；並且同時監測各外顯子捕捉之效率。 結果 此NGS基因分析套組的平均覆蓋率為174.9x，95.7%的核苷酸讀深超過30x。在40人中，致病性變異點可在16個人身上被偵測到 (40%)。其中，又以肌肉失養症的診斷率最高，21個肌肉失養症病人可以確認出10名患者的致病基因變化(47.6%) ，其次為CMT 33% (2/6) 和OI∕EDS 33% (3/9)。 結論 次世代定序基因套組可以快速有效的偵測患者的致病基因變化，提供患者與醫療人員得知正確的診斷以供後續照顧參考。 | zh_TW |
| dc.description.provenance | Made available in DSpace on 2021-06-08T02:48:06Z (GMT). No. of bitstreams: 1 ntu-106-P04448013-1.pdf: 1953693 bytes, checksum: 67ad3daf2afb157eff50a7300aa9ba8c (MD5) Previous issue date: 2017 | en |
| dc.description.tableofcontents | 摘要 i
ABSTRACT ii TABLE OF CONTENT iv LIST OF TABLE v LIST OF FIGURE vi CHAPTER 1. INTRODUCTION 1 CHAPTER 2. MATERIALS AND METHODS 6 CHAPTER 3. RESULTS 9 CHAPTER 4. DISCUSSION 14 CHAPTER 5. REFERENCE 17 | |
| dc.language.iso | en | |
| dc.title | 遺傳疾病次世代基因分析套組之建立 | zh_TW |
| dc.title | Development of a next generation sequencing panel for inherited diseases | en |
| dc.type | Thesis | |
| dc.date.schoolyear | 105-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.oralexamcommittee | 李妮鍾(Ni-Chung Lee),胡務亮(Wuh-Liang Hwu),楊智超(Chih-Chao Yang) | |
| dc.subject.keyword | 次世代定序,基因分析套組,肢帶肌肉失養症,Charcot Marie Tooth氏症,神經肌肉疾病, | zh_TW |
| dc.subject.keyword | Next-generation sequencing,Gene panel,Limb-girdle muscular dystrophy,Charcot-Marie Tooth,Neuromuscular disease, | en |
| dc.relation.page | 35 | |
| dc.identifier.doi | 10.6342/NTU201704070 | |
| dc.rights.note | 未授權 | |
| dc.date.accepted | 2017-08-18 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
| 顯示於系所單位： | 分子醫學研究所 | |
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