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| 用荧光原位杂交技术显示染色体易位 | |
| 引用本文： | 朱冠山,Oliver Bartsch,万谟彬.用荧光原位杂交技术显示染色体易位[J].第二军医大学学报,2000,21(9):853-856,F003. |
| 作者姓名： | 朱冠山 Oliver Bartsch 万谟彬 |
| 作者单位： | 1. 上海长海医院,200433 2. 德累斯顿科技大学临床遗传学研究所,德累斯顿,德国 3. 埃森大学人类遗传学研究所,埃森,德国 |
| 摘 要： | 目的：应用荧光原位杂交技术（ｆｌｕｏｒｅｓｃｅｎｃｅ ｉｎ ｓｉｔｕ ｈｙｂｒｉｄｉｚａｔｉｏｎ，ＦＩＳＨ）对Ｇ显带提示有染色体易位的病例进行分析，阐明易位本质。方法：以定位于待研究染色体区段的酵母人工染色体（ｙｅａｓｔ ａｒｔｉｆｉｃｉａｌｃｈｒｏｍｏｓｏｍｅ，ＹＡＣ）作为ＤＮＡ来源，结果：两组经Ｇ显带未能明确显示的染色体结构异常，经ＦＩＳＨ证实，一例为发生于１１号染色体与１３号染色体之间的平衡 |
| 关 键 词： | 染色体结构异常 荧光原位杂交 YAC DOP－PCR |
Delineation of chromosome translocations by fluorescence in situ hybridization |
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| ZHU Guan-Shan,Oliver Bartsch,WAN Mo-Bin,Gabriele Gillessen-Kaesbach,Eb erhard Passarge.Delineation of chromosome translocations by fluorescence in situ hybridization[J].Academic Journal of Second Military Medical University,2000,21(9):853-856,F003. | |
| Authors: | ZHU Guan-Shan Oliver Bartsch WAN Mo-Bin Gabriele Gillessen-Kaesbach Eb erhard Passarge |
| Abstract: | Objective: To delineate the G banding suggested chromosome translocations by fluorescence in situ hybridization (FISH) technique. Methods: Locus specific probes, generated by degenerate oligonucleotide primed PCR (DOP PCR) technique from yeast artificial chromosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G banding, FISH confirmed that one had a balanced translocation between chromosome 11 and chromosome 13, the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particularly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s). |
| Keywords: | chromosome structural aberration fluorescence in situ hybridization degenerate oligonucleotide primed PCR |
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