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| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 李妮鍾(Ni-Chung Lee) | |
| dc.contributor.author | Chao-Fan Liu | en |
| dc.contributor.author | 劉超凡 | zh_TW |
| dc.date.accessioned | 2022-11-25T07:48:20Z | - |
| dc.date.available | 2024-10-31 | |
| dc.date.copyright | 2021-11-08 | |
| dc.date.issued | 2021 | |
| dc.date.submitted | 2021-10-21 | |
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'A copy number variation map of the human genome.' Nature reviews genetics 16(3): 172-183. | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82637 | - |
| dc.description.abstract | 造成胎兒異常的因素很多，染色體不平衡分配、拷貝數變異與單基因疾病約佔整體異常的45~55%，因此產前檢測被認為是避免生產先天異常胎兒的重要方式之一。本研究蒐集2015-2020年於國立臺灣大學附設醫院進行產前單核苷酸多型性晶片篩檢的陽性個案共95例與留存結果，並比對遺傳來源與留存率的影響。結果顯示在單一染色體多倍體異常的陽性個案留存率為17.4%，留存者皆為性染色體異常的胎兒；至於在微片段缺失留存率為63.64%，異常源自遺傳及自發性突變的留存率各為89.47%與36.36%；而微片段擴增留存率為82.35%，異常源自遺傳及自發性突變的留存率則各為90.91%與60.00%，本研究證實相比於自發性突變，父母更傾向留存異常遺傳自雙親的胎兒。而蒐集到的95例陽性個案中以22號染色體q11.21位點變異最為常見，含7例微片段缺失與4例微片段擴增，本文數據也呈現缺失與擴增片段大小對於活產胎兒的週數與出生體重尚無相關。 | zh_TW |
| dc.description.provenance | Made available in DSpace on 2022-11-25T07:48:20Z (GMT). No. of bitstreams: 1 U0001-2110202101302800.pdf: 3249246 bytes, checksum: 19ba69aa93a567dfcf060d4db8ee01b4 (MD5) Previous issue date: 2021 | 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 研究背景與動機..……………………………………………..01 1.1 產前檢測的歷史演變…………………………………….01 1.2 目前產前檢測目標、方式及種類……………………….01 1.3 拷貝數變異………………………………...……………..02 1.3.1 染色體核型分析……………………………………..…02 1.3.2 染色體晶片……………………………………………..04 1.3.3 染色體晶片與染色體核型比較………………………..05 1.3.4 次世代定序於拷貝數變異偵測的發展…………..……06 1.4 現今對產前檢測異常胎兒去留的文獻回顧…………….07 1.5 研究目的………………………………………………….09 第二章 研究方法……………………………………………………....10 2.1 檢體來源…………………………………………..……...10 2.2 羊水DNA萃取…………………………………………...10 2.3 SNP晶片試驗…………………………………………….11 2.4 Chromosome Analysis Suite分析………………………...25 2.5 晶片檢測後追蹤…………………………………………..28 2.6 資料統計…………………………………………………..28 第三章 結果…………………………………………………………....29 3.1 2015-2020臺大醫院產前晶片結果…………..…………..29 3.2 產前晶片異常案例適應症分布…………………….……30 3.3 產前晶片異常類型……………………………………….31 3.4 單一染色體多倍體/單倍體異常案例、複檢與留存結…32 3.5 微片段缺失異常案例、複檢與留存結果……………….33 3.6 微片段擴增異常案例、複檢與留存結果……………….34 3.7 常見異常微片段遺傳來源與胎兒留存率……………….36 3.8 常見異常微片段留存胎兒之出生體重、生產週數與產前 適應症……………………………………………………..37 3.9 缺失/擴增片段大小對於留存胎兒之出生體重與生產週數 影響………………………………………………………..37 第四章 討論…………………………………………………………....39 4.1 產前晶片之陽性檢測率、孕婦年齡與胎兒性別……….40 4.2 產前晶片異常類別與留存結果………………………….41 4.3 性染色體變異留存探討………………………………….42 4.4 體染色體變異留存探討………………………………….42 4.5 微片段變異與遺傳性留存探討………………………….44 4.6 常見微片段變異與超音波檢測之留存關聯………….....45 4.7 微片段變異遺傳來源探討……………………………….47 4.8 晶片平台限制………...…………………………………..48 4.9 未來展望………………………………………………….49 4.10 結論…………………………..………………………….50 第五章 參考文獻……………………………………………………....51 第六章 圖表…………………………………………………………....57 | |
| dc.language.iso | zh-TW | |
| dc.subject | 微片段缺失 | zh_TW |
| dc.subject | 單核苷酸多型性晶片 | zh_TW |
| dc.subject | 微片段擴增 | zh_TW |
| dc.subject | 留存率 | zh_TW |
| dc.subject | Single-nucleotide polymorphism array | en |
| dc.subject | microduplication | en |
| dc.subject | microdeletion | en |
| dc.subject | CNV | en |
| dc.subject | retention rate | en |
| dc.title | 產前晶片篩檢陽性個案之胎兒留存探討 | zh_TW |
| dc.title | Discussion the fetal retention of positive case by prenatal array screening | en |
| dc.date.schoolyear | 109-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.oralexamcommittee | 胡務亮(Hsin-Tsai Liu),林芯伃(Chih-Yang Tseng) | |
| dc.subject.keyword | 單核苷酸多型性晶片,留存率,微片段缺失,微片段擴增, | zh_TW |
| dc.subject.keyword | CNV,Single-nucleotide polymorphism array,retention rate,microdeletion,microduplication, | en |
| dc.relation.page | 87 | |
| dc.identifier.doi | 10.6342/NTU202103952 | |
| dc.rights.note | 同意授權(限校園內公開) | |
| dc.date.accepted | 2021-10-22 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
| dc.date.embargo-lift | 2024-10-31 | - |
| 顯示於系所單位： | 分子醫學研究所 | |
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