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| 用FISH技术分析一例表型异常的染色体平衡易位 | |
| 引用本文： | 朱冠山,万谟彬,Oliver Bartsch.用FISH技术分析一例表型异常的染色体平衡易位[J].中华医学遗传学杂志,2001,18(2):96-99. |
| 作者姓名： | 朱冠山 万谟彬 Oliver Bartsch |
| 作者单位： | 1. 上海第二军医大学附属长海医院;Institut für Humangenetik, Universittsklinikum Essen, Hufelandstrasse 55, 2. 上海第二军医大学附属长海医院 3. Institut für Klinische Genetik, TU Dresden, Universittsklinikum, Fescherstrasse 74, 4. Institut für Humangenetik, Universittsklinikum Essen, Hufelandstrasse 55, |
| 摘 要： | 目的 应用荧光原位杂交技术对1例染色体结构异常患者进行分析，阐明结构异常性质，并精细定位断点，方法 对一先天表型异常经细胞遗传学检查有t(5;10)的病例，分别选和5号染色体探针池以及用酶母人工染色体作为DNA来源制备的断点区位特异性探针，进行光染色体原位杂交。结果 证实患者染色体异常属平衡易位，并将5号和10号染色体的断点分别定位到1．5Mb及约3Mb的范围。结论 患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。 |
| 关 键 词： | 荧光原位杂交 染色体结构异常 先天性发育不良 诊断 |
| 修稿时间： | 2000年5月29日 |
Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization |
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| Oliver Bartsch,Gabriele Gillessen-Kaesbach,Eberhard Passarge.Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization[J].Chinese Journal of Medical Genetics,2001,18(2):96-99. | |
| Authors: | Oliver Bartsch Gabriele Gillessen-Kaesbach Eberhard Passarge |
| Institution: | Changhai Hospital, the Second Military Medical University, Shanghai 200433 P. R. China. guanshan_zhu@hotmail.com |
| Abstract: | Objective To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints. Methods The whole chromosome point 5(wcp5) and locus specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G banding examination in a case with congenital abnormality. Results A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion The phenotypic abnormality might result from the disruption of disease associated gene(s) or microrearrangement(s) on the site of breakpoint(s). |
| Keywords: | fluorescence in situ hybridization chromosome structural aberration congenital abnormality disease associated balanced chromosome rearrangements |
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