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研究生:陳景亮
研究生(外文):Jing-Liang Chen
論文名稱:嵌合型合併三染色體21之胚胎研究
論文名稱(外文):Investigation of an Abortus with a Chimera and Trisomy 21 Karyotype : chi 47, XX, + 21/46, XY
指導教授:劉怡均劉怡均引用關係
指導教授(外文):Ingrid Liu
學位類別:碩士
校院名稱:慈濟大學
系所名稱:分子生物暨人類遺傳學系碩士班
學門:生命科學學門
學類:生物訊息學類
論文種類:學術論文
論文出版年:2011
畢業學年度:99
語文別:英文
論文頁數:36
中文關鍵詞:嵌合型合併三染色體21胚胎
外文關鍵詞:Chimerachi 47XX+ 21/46XY
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產前檢查一直是篩檢、矯正以及預防先天疾病的有效策略之一,而非整倍數染色體是人類胚胎最常發生的染色體異常疾病,也是導致流產與先天性缺損的首因。我們在此發表一例在懷孕期第二十週人工引產具有染色體組合:chi, 47, XX, +21/46, XY的嵌合體胚胎。我們先以解剖並後續以染色體核型 ( karyotype ) 以及短相連重複序列 ( short tandem repeat, STR ) 分析此胚胎的大腦皮質層、腎臟皮質層、皮膚層以及胎盤組織,發現嵌合型的染色體組合在各組織內都能檢測到,而STR分析的結果顯示多出自染色體21來自父方,推測可能是帶有X染色體的精子生成時減數分裂第一期發生第21號染色體不分離造多一個21號染色體的精子,而此23, X, +21之精子與一健康卵子結合,形成胚胎47, XX, +21;而另外正常帶Y染色體的精子與健康卵子結合形成胚胎46, XY ; 此兩種不同染色體組合的胚胎在早期時融合,發展成此嵌合體:47, XX, +21/46, XY。
Aneuploidy is the most common chromosomal abnormality occurred in human fetus, and is the leading genetic cause of miscarriage and congenital birth defects. Here we report an induced aborted fetus at the age of gestational 20th week with a chimeric karyotype of 47, XX, +21/46, XY. We examined various tissues of the fetus including the cerebral cortex, kidney, skin, and the placenta with autopsy, followed by karyotyping, and short-tandem-repeat (STR) analysis. All examined tissues revealed chimera/trisomy 21 karyotype but in different ratios of 47, XX, +21 to 46, XY. Two STR markers specific for chromosome 21 indicated the paternal origin of the additional chromosome 21. Possible mechanisms for formation of this chimera/ trisomy 21 are discussed.
ABSTRACT ------------------------------------------------------------- I

中文摘要 ------------------------------------------------------------- II

INDEX ------------------------------------------------------------- III

INTRDURCTION ------------------------------------------------------ 1

SUBJECTS AND METHODS ---------------------------------------- 7

RESULTS ----------------------------------------------------------- 15

DISCUSSION ----------------------------------------------------------- 18

FIGURES ------------------------------------------------------------ 24

REFERENCES ---------------------------------------------------------- 32
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