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| 題 名 | 插入序列導致X染色體脆折症篩檢的CGG重複次數之判定困難=Insertion Sequence Interferes CGG Repeats Determination in the Fragile X Syndrome Screening Test |
|---|---|
| 作 者 | 吳曉涵; 李建宏; 張璧月; 闕宗熙; 王美嘉; | 書刊名 | Journal of Biomedical & Laboratory Sciences |
| 卷 期 | 34:4 2022.12[民111.12] |
| 頁 次 | 頁184-193 |
| 分類號 | 415.12 |
| 關鍵詞 | X染色體脆折症; CGG重複次數; 準突變型; 插入中斷; FXS; Fragile X syndrome; CGG repeats; Pre-mutation; Repeat-primed PCR; Insertion interruption; |
| 語 文 | 中文(Chinese) |
| 中文摘要 | Repeat-primed PCR 是 X 染色體脆折症 (Fragile X syndrome; FXS) 目前常用的檢測法,本案例在 FXS 致病區域 (5'-UTR region of the FMR1 gene) 內發生 38 bp 的插入序列,造成 repeat-primed PCR 高估了 13 次 CGG 重覆,出現不連續、不典型的龍脊狀連續波鋒。透過定序確認案例的 CGG 重覆應為 67 次而 非 repeat-primed PCR 判定之 80 次,兩者均屬 FXS 準突變型,但親代遺傳給子代發生完全突變型之風 險不同 (分別為 5.3%與 57.8%),可能影響後續遺傳諮詢建議。為避免不正確的 CGG 重覆影響臨床判斷, 建議以 repeat-primed PCR 篩檢 FXS 時,若出現不連續、不典型的龍脊狀連續波鋒,應再以 DNA 定序 法進行確認。 |
| 英文摘要 | Repeat-primed PCR is the most common method for Fragile X syndrome (FXS) detection. A 38- bp insertion into 5'-UTR region of the FMR1 gene was noted to overestimate 13 repeats for the number of CGG repeats and present a discontinuous, atypical dragon’s back peaks in repeat-primed PCR. The correct number of CGG repeats of this case was confirmed to be 67 by direct sequencing, instead of 80 by repeat-primed PCR. Although both number of CGG repeats were belonging to pre-mutation, their rates of full-mutation transition on fetus were greatly different, 5.3% and 57.8% for 67 and 80 CGG repeats, respectively. Higher full-mutation transition rate weights more in the following genetic counseling. To prevent excessive or even miss interpretation caused by incorrectly determining CGG repeats, DNA sequencing should be used to confirm CGG repeats while the discontinuous or interrupted atypical dragon's back peaks revealed in repeat-primed PCR. |
本系統中英文摘要資訊取自各篇刊載內容。