伴t(1;7)易位骨髓增生异常综合征的双色荧光原位杂交研究

Dual-color FISH study on myelodysplastic syndrome with 1;7 translocation

目的 通过对 5例伴有 t(1;7)易位的骨髓增生异常综合征 (myelodysplastic syndromes,MDS)患者进行研究 ,并进一步确定易位染色体着丝粒的组成和来源。方法 采用骨髓细胞直接法或短期培养法制备染色体 ,应用 R显带技术进行核型分析。应用荧光素 Spectrum Red标记的 1号染色体着丝粒特异性α卫星 DNA探针和荧光素 Spectrum Green标记的 7号染色体着丝粒特异性α卫星 DNA探针 ,对其中 3例患者进行双色荧光原位杂交 (fluorescence in situ hybridization,FISH)研究。结果 5例患者均有 t(1;7)易位。双色 FISH显示其中 3例患者 t(1;7)易位所致衍生染色体的着丝粒均由红绿两个信号融合而成。结论 双色 FISH证实 MDS患者 t(1;7)易位染色体着丝粒由 1号和

Objective To study the myelodysplastic syndrome(MDS) with 1;7 translocation in five cases and to determine further the constitution and origin of centromere of the derivative chromosome resulting from 1;7 translocation. Methods Bone marrow chromosome preparation of five cases was made using direct method or short term culture. Karyotypic analysis was carried out by R banding technique. Dual color fluorescence in situ hybridization(FISH) using SpectrumRed and SpectrumGreen directly labeled chromosome 1 specific α satellite DNA probe(red) and chromosome 7 specific α satellite DNA probe(green) was performed in three patients of them. Results All of the five cases had 1;7 translocation. The centromere of the derivative chromosome 7p/1q was constituted with red and green signals in three of them. Conclusion The result of dual color FISH confirms that the centromere of the derivative chromosome resulting from 1;7 translocation originated from both centromeres of chromosome 1 and chromosome 7.