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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 | 陳沛隆 | |
dc.contributor.author | Yu-Shan Huang | en |
dc.contributor.author | 黃于珊 | zh_TW |
dc.date.accessioned | 2021-06-17T07:01:26Z | - |
dc.date.available | 2020-08-28 | |
dc.date.copyright | 2019-08-28 | |
dc.date.issued | 2019 | |
dc.date.submitted | 2019-08-01 | |
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dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/72588 | - |
dc.description.abstract | 先天性腎上腺增生症為參與合成皮質醇的酵素缺乏導致異常之體染色體隱性遺傳疾病。其症狀包含皮質醇缺乏造成低血糖、雄性素過多導致女嬰外生殖器外觀異常、醛固酮不足引發體內鹽類失衡,出現高血鉀、低血鈉、脫水與代謝性酸中毒等病症。超過九成個案為CYP21A2基因異常,導致身體無法有效合成類固醇-21羥化酶,引發體內荷爾蒙生成異常。CYP21A2位於重組頻率極高的MHC 區域,又有與其相似性極高的假性基因CYP21A1P,造成臨床上分子檢測極大的困難。
神經纖維瘤第一型是一種常見的自體顯性遺傳疾病。主要致病原因為NF1基因突變引起神經纖維細胞不正常增生,致使病患身體各處長出大小不一的腫瘤,皮膚出現淺咖啡色的斑點,屬於全身性的疾病。NF1目前已知超過3000個變異位置,臨床進行基因檢測需要耗費龐大的人力與時間成本。 有鑑於此,本研究建立以探針擷取的次世代定序方法,應用於先天性腎上腺增生症與神經纖維瘤第一型之基因檢測,以期解決CYP21A2與NF1目前分子檢測上之難題,並達到快速篩檢成效。 結果顯示,利用次世代定序平台確實檢驗出先天性腎上腺增生症與神經纖維瘤第一型之變異位置,並且有效鑑別不同變異形式,包含假性基因突變點小片段交換、大片段缺失、單一位點變異以及嵌合型等複雜型態,此外更有效降低時間及人力成本,達到高效率高準確性之篩檢成果。於臨床醫學輔助鑑別診斷,於遺傳諮詢則可提供適切的衛教資訊,協助個案做生涯規劃及風險管理。 | zh_TW |
dc.description.abstract | Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency due to disease-causing variants in the CYP21A2 gene. CYP21A2 is part of the RCCX module inside human major histocompatibility complex (MHC), a chromosomal region highly prone to genetic recombination events that can result in a wide variety of complex rearrangements. Besides, a pseudogene, CYP21A1P, shares 98% sequence homology with CYP21A2 but contains several alterations rendering it inactive, which make it technically very challenging to detect variation of CYP21A2.
Neurofibromatosis type I (NF1) is a common autosomal dominant disease, caused by mutations in the NF1 gene. Clinically, NF1 patients are prone to develop café-au-lait macules, neurofibromas, lisch nodules and skinfold freckling. There are over 3000 disease-causing variants, including structural variations, of NF1. Patients can show extreme variability in their clinical features, even in individuals from the same family with an identical germline NF1 mutation. All of these make it difficult to confirm NF1 patient by genetic testing. In this study, we established a pipeline taking advantage of capture-based target enrichment followed by next-generation sequencing (NGS)-based genetic testing to detect the disease-causing variants of CAH and NF1. The result showed probe-captured NGS-based genetic testing represents a rapid and sensitive tool for detecting various kinds of disease-causing variants of CAH and NF1, including gene conversion, large deletion, single nucleotide variation, small indels and mosaicism. | en |
dc.description.provenance | Made available in DSpace on 2021-06-17T07:01:26Z (GMT). No. of bitstreams: 1 ntu-108-P06448009-1.pdf: 3398594 bytes, checksum: eb5c896801d358545d12315f5e587533 (MD5) Previous issue date: 2019 | en |
dc.description.tableofcontents | 口試委員會審定書 i
誌謝 ii 中文摘要 iii 英文摘要 iv 第一章 先天性腎上腺增生症 1 1.1 研究背景 1 1.1.1 病因學 1 1.1.2 發生率 1 1.1.3 臨床症狀 2 1.1.4 臨床分型 2 1.1.5 治療方式 3 1.1.6 致病基因 3 1.1.7 基因檢測之臨床限制 4 1.2 研究動機 4 1.3 研究方法 5 1.3.1 檢體蒐集與製備 5 1.3.2 黃金標準檢測法設立 5 1.3.2.1 長片段聚合酶連鎖反應 (Long Range Polymerase Chain Reaction, LRPCR) 5 1.3.2.2 桑格定序法 (Sanger Sequencing) 8 1.3.3 次世代定序分析 (Next Generation Sequencing, NGS) 8 1.3.3.1 探針設計 8 1.3.3.2 次世代定序平台 9 1.3.3.3 檢體庫製備 10 1.3.3.4 定序方法 16 1.3.3.5 生物資訊數據分析 16 1.4 結果 16 1.4.1 臨床檢體以黃金標準檢測法分析結果 16 1.4.2 臨床檢體以次世代定序分析結果 24 1.5 討論 27 1.5.1 基因檢測結果差異性分析 27 1.5.2 自體突變率分析 28 1.5.3 基因變異型別及比例分析 30 1.5.4 臨床醫學之應用 31 1.5.5 遺傳諮詢之應用 32 第二章 神經纖維瘤症第一型 33 1.1 研究背景 33 1.1.1 病因學 33 1.1.2 發生率 33 1.1.3 典型臨床症狀 33 1.1.4 臨床診斷 34 1.1.5 治療方式 34 1.1.6 致病基因 34 1.1.7 基因檢測之臨床限制 35 1.2 研究動機 35 1.3 研究方法 35 1.3.1 檢體蒐集與製備 36 1.3.2 次世代定序分析 36 1.3.2.1 探針設計 36 1.3.2.2 次世代定序平台 36 1.3.2.3 檢體庫製備 37 1.3.2.4 定序方法 37 1.3.2.5 生物資訊數據分析 37 1.4 結果 37 1.4.1 變異位置分析 37 1.4.2 利用讀深輔助判讀大片段刪除或重複序列 40 1.5 討論 40 1.5.1 整體準確率 40 1.5.2 基因變異型別及比例分析 41 1.5.3 臨床醫學之應用 42 1.5.4 遺傳諮詢之應用 42 1.5.5 次世代定序分析之優點 43 第三章 總結 44 第四章 參考文獻 45 | |
dc.language.iso | zh-TW | |
dc.title | 利用次世代定序進行困難疾病之基因檢測,以先天性腎上腺增生症及神經纖維瘤症第一型為例 | zh_TW |
dc.title | Next-generation sequencing (NGS)-based genetic testing of difficult diseases: Congenital adrenal hyperplasia and neurofibromatosis type 1 as examples | en |
dc.type | Thesis | |
dc.date.schoolyear | 107-2 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 蔡文友,楊偉勛,李銘仁 | |
dc.subject.keyword | 先天性腎上腺增生症,神經纖維瘤第一型,次世代定序,基因檢測,假性基因突變點小片段交換,大片段缺失,嵌合型, | zh_TW |
dc.subject.keyword | Congenital adrenal hyperplasia,Neurofibromatosis type I,Next-generation sequencing,Genetic testing,Gene conversion,Large deletion,mosaicism, | en |
dc.relation.page | 50 | |
dc.identifier.doi | 10.6342/NTU201902326 | |
dc.rights.note | 有償授權 | |
dc.date.accepted | 2019-08-01 | |
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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