https://scholars.lib.ntu.edu.tw/handle/123456789/194392
標題: | 透納氏症之分子遺傳學研究:著重於染色體Y成分存在之角色 | 作者: | 侯家瑋 | 關鍵字: | 透納氏症;染色體Y;生殖腺母細胞瘤;Turner Syndrome;Chromosome Y;Gonadoblastoma | 公開日期: | 1998 | 出版社: | 臺北市:國立臺灣大學醫學院小兒科 | 摘要: | 大多數的透納氏症病人只有一個正常功 能的X染色體,另一個X染色體可能早已 逸失,缺損或以拼湊型式存在。吾等以傳 統細胞遺傳學分析102名透納氏症病人, 其中52名之核型為純45,X(51%),其餘則 表現出X染色體構造異常(拼湊型或非拼湊 型同染色體Xq,環形X染色體,X長臂缺 失,X短臂缺失及存在額外染色體標 誌)(17%),及拼湊型單X染色體症/合併XY 核型細胞(32%)。為探討帶有純45,X核型 透納氏症病人為何存在程度不同的表現 型,吾等以聚合鏈反應分析DNA(以人 類雄激素接受器基因序列引子),結果發 現仍有15%(6/40)出現低比率的46,XX拼湊 型,但無法發現有Y染色體成分(以Y一特 異基因序列引子)。經由螢光性原位雜交 法分析,帶有標誌染色體的9個病例中, 有5名源於Y染色體(56%)。核型及表現型 關聯分析發現帶有Y來源標誌之染色體者 及各式不同比率的46,XX/46,XY拼湊型者 之相對較高身長及不會發生先天性心臟血 管疾病(尤其是帶有Y基因者)。然而經剖 腹檢查仍有一個45,X/46,XY病例已出現生 殖腺母細胞瘤。 Most patients with Turner syndrome (TS) have only one normal functioning X chromosome; the other is either missing, deleted, or present in the mosaic form. Conventional cytogenetic studies in 102 TS patients have showed that 51% have the karyotype 45,X, whereas the rest have structural aberrations of the X chromosome (ie, mosaic/non-mosaic, isoXq, r(X), Xp-, Xq-, +marker of unknown origin) (17%), or mosaicism with a second (even a third) cell line containing a structurally normal X or Y chromosome (32%). To study the possible role of cryptic mosaicism in phenotypical variation of 45,X TS, we avalysed low-level mosaicism by methods based on the polymerase chain reaction (PCR) by HUMURA assay. A further finding was the detection of a frequency of 16% (9/56) mosaicism with 46,XX in TS girls who by cytogenetic analysis were thought to have a pure 45,X karyotype. No Y component could be detected in those patients. DNA (PCR) and FISH (fluorescence in situ, hybridization) analysis were carried out in 9 cases with chromosome markers. Five of them showed positive signal of PYZ3 (Y centromere) and/or DYZ1 (Yqh). Karyotype- phenotype study showed relatively higher height and no cardiovascular disorders in TS patients with Y component or with mosaic 46,XY/46,XX cell line. However, a case with 45,X/46,XY has developed gonadoblastoma after laparotomy and excision of the residual gonadal tumors in those TS patients with Y component. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/22825 | 其他識別: | 872314B002173 | Rights: | 國立臺灣大學醫學院小兒科 |
顯示於: | 醫學系 |
檔案 | 描述 | 大小 | 格式 | |
---|---|---|---|---|
872314B002173.pdf | 31.99 kB | Adobe PDF | 檢視/開啟 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。