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題 名 | Rapid Diagnosis of Common Aneuploidies by Quantitative Fluorescent Polymerase Chain Reaction=以螢光聚合酶鏈反應技術對非整倍數染色體的診斷 |
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作 者 | 楊奇凡; 蔡輔仁; 鄔哲源; 施怡如; 李正淳; 蔡長海; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 40:5 民88.09-10 |
頁 次 | 頁330-334+361 |
分類號 | 417.133 |
關鍵詞 | 不整倍數變異; 三染體; 螢光聚合酶鏈反應; Aneuploidies; Trisomies; Fluorescent polymerase chain reaction; |
語 文 | 英文(English) |
中文摘要 | 新生兒最常見的體染色體之不整倍數變異,包括了第21、18和13對染色體的異 常。對此,以往都是藉由細胞遺傳分析法以進行產前或產後染色體檢查。本研究即在評估利 用多形性基因標誌之螢光聚合□鏈反應,對三染體-21、18和13之診斷的可行性。針對所收 集的20位三染體-21病人與10位三染體-18病人,分別以第21對染色體和第18對染色體上 的多形性基因標誌:D21S11和MBP進行檢查。並且利用第13對染色體上的標誌:D13S133、 D13S314和D13S316對10位三染體-13病人與47位正常人進行螢光聚合□鏈反應偵測。經由 分析聚合□鏈反應產物的片段大小與螢光強度,三染體病人表現出螢光強度相等的三個對偶 子型態或是螢光強度為2比1的兩個對偶子型態。而正常人則表現出螢光強度相等的兩個寺 偶子型態,或是兩聚合□鏈反應產物片段大小相等而只呈現出單個訊號。若增加多形性基因 標誌,並且收集更多的三染體檢體加以研究,將有助於提高此法的可信度。本研究調查螢光定 量聚合□鏈反應與傳統細胞遺傳之核型分析的比較,在所有染色體異常之病例中,此兩種方法 所得的結果均相符合。 |
英文摘要 | The most frequent autosomal aneuploidies in newborns involve chromosomes 21, 18, and 13. The pre- and postnatal detection of chromosome abnormalities has been almost exclusively performed by cytogenetic analysis. In this paper, we assess the diagnostic value of fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STR). PCR products are distinguished via both size and fluorescence intensity to confirm the trisomy by either triallelic signals with similar fluorescence intensities or diallelic pattern with double-dose response. Compared with the relatively time-consuming and laborious classic cytogenetic analysis, this technique is rapid, inexpensive, and sensitive for the detection of trisomies 21, 18 and 13, particularly when the numbers of cells obtained from the prenatal diagnosis is limited or where cell culture fails. With greater samples tested and more STR markers available, this method will become more reliable. This study investigates the detection of aneuploides involving chromosomes 21, 18, and 13 by comparing quantitative fluorescent PCR with karyotyping performed by conventional cytogenetics. The results obtained by the two techniques were concordant in all trisomy cases of this study. |
本系統中英文摘要資訊取自各篇刊載內容。