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dc.contributorShu-Peng Hoen_US
dc.contributor.authorMin-Hui Huangen_US
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dc.description.abstract羊膜穿刺術是產前診斷染色體異常非常普遍和有效的工具,標記染色體在染色體異常個案中是非常罕見的,而標記染色體可能來自任何一條染色體的任何區域。臨床上,標記染色體的表現型差異非常大,又缺乏快速有效的診斷方法,因此增加產前診斷遺傳諮詢時的困難度。 染色體微陣列比較基因體雜交(aCGH)是利用兩組基因體(對照組與檢測組),它們分別以不同的螢光標定後,再置於表面固著中期(metaphase)染色體的載玻片上進行競爭式雜交,然後標記測試DNA的螢光信號強度相對於參考DNA的螢光信號強度,可以顯現每個染色體上線性的表徵,從而鑑定拷貝數變化。本研究收集自2004年1月起至2015年12月止,共12年間羊膜穿刺染色體分析個案共68,087件,染色體異常率為2.17%,其中有59件為標記染色體,占總個案數的比率為0.087%,取其中45件個案羊水細胞進行染色體微陣列分析。發現了7個案例具有致病性基因的增益(gain),異常率佔16%(7/45),包括3例貓眼症候群的個案、1例Pallister-Killian syndrome個案、1例標記染色體15症候群個案。另2例微型標記染色體分別衍生自第11號染色體長臂和第12號染色體短臂。但是,案例8(細胞鑲嵌比率18.03%)經aCGH並未判定具有致病性基因增益,然而,以螢光原位雜交染色,檢出其異常標記染色體來自iso(18p),可能為一偽陰性案例。 傳統上,針對標記染色體(sSMC)檢測和特徵的描述,細胞遺傳學分析是一個金標(gold standard)技術,然而,本研究透過染色體微陣列比較基因組雜交技術分析,於分析的45個案例中,檢測出其中7個案例具有致病性基因增益,此結果顯示染色體微陣列分析確實可以提供遺傳諮詢更詳細的資訊,並對於未檢出具有致性基因增益的新生異常(de novo)個案,提高個案繼續懷孕的意願。另外,針對鑲嵌比率低於30%的個案,我們建議以未培養的羊水細胞進行微陣列分析,以避免因為培養造成偽陰性的結果。zh_TW
dc.description.abstractAmniocentesis is a very common and effective tool for prenatal diagnosis of chromosomal abnormalities, whereas marker chromosomes are very rare chromosomal abnormalities. They may come from any region of any chromosome and the phenotypic variations are very tremendous. However, the genetic counseling of marker chromosomes becomes very difficult in prenatal diagnosis because of lacking rapid and effective molecular diagnostic methods that can clarify and characterize the marker chromosomes. Chromosomal microarray comparative genomic hybridization (aCGH) uses two genomes (test and control), which are differentially labeled, and competitively hybridized to metaphase chromosomes. The fluorescent signal intensity of the labeled test DNA, relative to that of the control DNA, can then be linearly plotted across each chromosome for identification of changes on copy number. In this study, we collected a total of 68,087 cases of amniocentesis from January 2004 to December 2015. The chromosome aberration rate is 2.17% (1,478/68,087). In which, 59 cases were identified as small supernumerary marker chromosomes (sSMC), accounting for 0.087% (59/68,087) of the total collected cases. We performed chromosomal microarray CGH analysis in 45 of these 59 cases. Seven abnormal cases were found, with an abnormal rate of 16%, and comprising three cases of Cat Eye Syndrome, one case of Palister-Killian Syndrome, and one case of marker chromosome 15 syndrome. The other two marker chromosomes were derived from long arm of chromosome 11 and short arm of chromosome 12, respectively. But, the abnormal chromosome of case #8 (cell mosaic ratio 18.03%) was not found with the pathogenic gene gain via aCGH analysis. However, it may be a false negative case that was identified to be the iso(18p) by using fluorescence in situ hybridization. Traditionally, the cytogenetic karyotyping is a gold standard technique for analysis of sSMC. Nevertheless, in our study, combining with aCGH analysis, pathogenic gene gains were found in 7 cases out of 45 cases. This result showed that aCGH analysis is possible to obtain information on whether there is a change on gene dose quickly and the possibility of gaining pathogenic genes. Such result provides a very informative reference for couples with sSMC in making decisions on continuing pregnancy which the gain of the pathogenic gene is not detected in de novo cases. In addition, for cases with a mosaic ratio of less than 30%, we recommend using uncultured amniocytes for aCGH analysis to avoid false negative results from cultured cells.en_US
dc.description.tableofcontents致謝 i 中文摘要 ii Abstract iii 目錄 iv 表目錄 v 圖目錄 vi 第一章 緒論 1 第二章 文獻探討 3 第一節 染色體研究 3 第二節 國際系統的人類細胞遺傳學命名 6 第三節 羊水運用於產前診斷及適應症 7 第四節 產前診斷常見染色體異常 8 第五節 臨床常見非整倍體(Aneuploidy)染色體異常 10 第六節 染色體異常的其他輔助診斷方法 18 第七節 小的額外標記染色體 (Small Supernumerary Marker Chromosomes ; sSMCs) 簡稱標記染色體 23 第三章 材料與方法 32 第一節 羊水細胞培養 32 第二節 萃取DNA 32 第三節 Oligonucleotides array CGH晶片 32 第四章 結果 34 第五章 討論 53 第六章 結論 63 第七章 附錄 64 第一節 縮寫表 64 第二節 45例晶片分析的標記染色體鑲嵌百分比與同一中期細胞20號染色體的比較圖 64 第三節 個案基本資料及微陣列比較基因雜交技術分析結果 69 第四節 BlueFuse Multi: 100 參考文獻 102zh_TW
dc.subjectPrenatal diagnosisen_US
dc.subjectarray CGHen_US
dc.titleThe use of chromosomal microarray analysis in prenatal diagnosis of small supernumerary marker chromosomeen_US
dc.typethesis and dissertationen_US
item.openairetypethesis and dissertation-
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