查詢結果分析
相關文獻
- Inversion and Enlargement of the Heterochromatin Region of Chromosome No.9 among Taiwanese
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頁籤選單縮合
題 名 | Inversion and Enlargement of the Heterochromatin Region of Chromosome No.9 among Taiwanese=臺灣人第九號染色體異染色質區倒轉及增長之發生率及其臨床意義 |
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作 者 | 劉怡均; 李明亮; 陳持平; 李貞姬; 林秀娟; 趙美琴; 方菊雄; | 書刊名 | 慈濟醫學 |
卷 期 | 9:3 1997.09[民86.09] |
頁 次 | 頁159-167 |
分類號 | 417.133 |
關鍵詞 | 染色體正常多型性; 9號染色體倒轉; 9號染色體增長; 唐氏症; Inversion; Enlargement; Chromosome 9; Down syndrome; |
語 文 | 英文(English) |
中文摘要 | 人類第9號染色體異染色質區倒轉(inv9)及增長(9qh+)的發生率依種族而有差異性, 且因其攜帶者之外表多無異常,一直被視為染色體的正常多型性,但亦有文獻指出inv(9)和9qh+ 分別與生育困難及多種疾病有相關。本研究旨在調查台灣人第9號染色體異染色質區增長(9qh+) 及倒轉(inv(9))的發生率,並分析其臨床上與疾病是否相關。我們針對4,752件獨立樣本(包括3,070 羊水檢體及1,682年疑似罹患染色體疾病人之週邊血液檢體)進行inv9及9qh+的篩檢,並分析其與 臨床疾病之關聯。羊水檢體之研究結果顯示台灣人inv (9) 之發生率為12﹪,而9qh+之發生率為7.21 ﹪且女性較男性顯著較多。另外,血液研究結果顯示,inv(9)及9qh+二者分別與數種不同之疾病 有相關,且同為不利生育之因子,在唐氏症病患中9qh+之發生率也偏高。依據此研究結果,我們建 議優生保健醫師及遺傳諮詢員對inv(9)或9qh+之攜帶者,除解釋inv9及9qh+為正常多型性外,並 應告知其與疾病之可能相關性。 |
英文摘要 | The purpose of this study was to investigate the prevalence of inversion and enlargement of the heterochromatin region of chromosome No.9 (inv(9);9qh+)among Taiwanese and analyze the possible clinical effects. A total of 4,752 unrelated cases, including 3,070 amniotic fluid samples and 1,682 peripheral blood samples, were screened for inv (9) and 9qh+. We further analyzed inv (9) and 9qh+ populations for their clinical association. The prevalence of inv (9) is 1.2﹪and that of 9qh+ is 7.21﹪among Taiwanese (obtained from amniotic fluid samples). There are more female carriers of inv (9) or 9qh+ than male carriers. Both inv (9) and 9qh+ are associated with various diseases and appear to be unfavorable for human reproduction. The prevalence of 9qh+ was also found to be very high among the Down syndrome population. We suggest that inv (9) or 9qh+ carriers of carrier couples should be re- minded of the potential clinical significance of inv (9) and 9qh+ when they receive genetic counseling. |
本系統中英文摘要資訊取自各篇刊載內容。