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題名 | Y-Specific Polymerase Chain Reaction for the Interpretation of a Chromosome Marker=以Y染色體特異性聚合酶鏈反應偵測染色體標記 |
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作 者 | 王作仁; 胡務亮; 侯家瑋; 蔡惠滿; 劉敬萱; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 34:2 民82.03-04 |
頁次 | 頁113-117 |
分類號 | 415.214 |
關鍵詞 | 染色體; |
語文 | 英文(English) |
中文摘要 | 染色體標記(marker)是一種很特別的染色體異常,除了正常的染色體外,患者另有一個(或多個)型小,無法辨認的染色體。這個額外染色體標記旳來源,可能是其他染色體斷裂轉接後之產物。染色體標記來源之探求,極為困難,但是此標記是否來自Y染色體(或含其成份),可能對患者之預後有極大之影響。本研究即探討以Y染色體特異性聚合酶鏈反應偵測染色體標記之可行性。我們採用一組根據Y染色體特異性序列而設計之導子(primer)。在對正常人的研究中,首先確立最具特異性的聚合酶鏈反應條件,並藉著正常男性及女性之比較,證明此聚合酶鏈反應具有對男性(Y染色體)的特異性。我們並研究一位患者。此患者之染色體分析呈現46, X, +marker。患者之生殖器外觀為女性,但陰核(clitoris)較長。Y染色體特異性聚合酶鏈反應之結果顯示患者具有此-Y染色體特異性序列,即表示此標記之來源為Y染色體。我們認為Y染色體特異性聚合酶鏈反應對染色體標記之患者是一種有效而且必需的診斷工具。 |
英文摘要 | Chromosome marker is a very special type of chromosomal aberration. In addition to their normal chromosomes, patients with this type of disease own one (or more) small, unrecognizable chromosome. The extra chromosome markers may originate from the products of breakage and translocation of other chromosomes. Interpretation of the chromosome marker is usually very difficult, but its presence is an important prognosis factor for patients if the marker originated from a Y chromosome, or its components. This study explores the possibility of interpreting the chromosome marker by Y-specific polymerase chain reaction. A pair of primers designed from one Y-specific DNA sequence was employed. By studying normal controls, the most specific conditions for the chain reaction were established. Comparison of normal males and females showed that this reaction is specific to males (that is, to the Y chromosome). Also one patient with a karyotype 46, X, +marker was studied. The external genitalia of this patient were female type except for an enlarged clitoris. Y-specific polymerase chain reaction showed that the patient did have the Y-specific sequence. The chromosome marker did originate from the Y chromosome. This work proposes that Y-specific polymerase chain reaction is an effective and necessary diagnostic procedure for patients with chromosome marker. |
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