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| 題 名 | A Molecular Method to Identify Origin of a de novo rea(13q13q)=rea(13q13q)根源之分子鑑定 |
|---|---|
| 作 者 | 王寶田; | 書刊名 | 彰化醫學 |
| 卷 期 | 7:3 2002.07[民91.07] |
| 頁 次 | 頁136-140 |
| 分類號 | 414.91 |
| 關鍵詞 | 同質性染色體; 魯伯孫式轉位; Rea(13q13q); Isochromosomes; Robertsonian translocation; |
| 語 文 | 英文(English) |
| 中文摘要 | 背景及目的:很久以來,rea(13q13q)一直被認為是由兩條不同的十三號染色體經 魯伯孫式轉位 (Robertsonian translocation) 而形成的; 但最近研究顯示, 在四個因 rea(13q13q) 存在而造成 Trisomy13 的案例當中, 有三個是因其中一條十三號染色體本身 不正常複製形成了同質性染色體 (isochromosome) 所引起。本項研究裡,我們利用 DNA 的 多形變異特性來檢定本案例所見之 rea(13q13q) 是不是也是屬於同質性染色體。 方法:流 產物檢體係取自一位懷孕八週的三十七歲孕婦, 染色體檢查結果顯示, 此流產兒的核型是 46,XX,-13,+rea(13q13q)。 我們以沿十三號染色體的十個已知具有多形變異的 DNA 序列片 段當記位置來檢定 rea(13q13q) 的屬性。結果:資料顯示,此 rea(13q13q) 實質上是一條 同質性染色體,且測知係遺傳自母親,並未見有「染色體互換」現象。結論:據此,我們認 為本方法能有效鑑定重組的成對染色體 (homologously rearranged chromosomes) 的真正 根源。 |
| 英文摘要 | Background and purpose:Rea (13q13q) has long been considered a chromosomal rearrangement resulting from a Robertsonian translocation between two different chromosome 13. However, in a recent study, it was demonstrated that 3 of 4 cases with homologous rearrangements of chromosome 13 resulting in trisomy 13 were isochromosomes. In this study, we attempted to develop an efficient molecular method to determine the origin of a de novo rea(13q13q) in an abortus Methods:An abortus specimen was collected from a 37-year-old owman following diagnosis of a missed abortion at gestational age of 8 weeks. Cytogenetic studies revealed the karyotype of the abortus to be 46, XX, -13, +rea (13q13q)de novo. Ten microsatellite markets along the length of chromosome 13 were used to study the nature of the rea (13q13q). Results:It was determined that this rea(13q13q) was a maternally derived isochromosome and that there was no recombination involved in the rearrangement. Conclusion:We conclude that this molecular approach is efficient enough to determine the origin of de novo homologously rearranged chromosomes. |
本系統中英文摘要資訊取自各篇刊載內容。