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目的 探讨连续R显带和荧光原位杂交技术(FISH)在鉴定白血病染色体复杂变异易位中的应用。方法 对 15例核型分析有疑问的标本在R显带基础上再进行荧光原位杂交。对比分析同一中期分裂相的显带和FISH结果。结果 4例应用BCR/ABL探针; 4例PML/RARa探针; 4例AML1 /ETO探针; 2例IgH探针; 1例MLL探针。经显带结果与FISH结果对比分析, 9例疑似的复杂易位得到确证,并精确定位。6例核型结果得到修正。结论 连续R显带和FISH方法在复杂变异易位的鉴定方面与传统的核型分析和直接FISH检测相比具有明显的优势。在白血病的诊断方面,对于未知异常染色体的检出将具有更广泛的应用前景。
Objective To investigate the application of continuous R banding and fluorescence in situ hybridization (FISH) in the identification of the complex variation translocation of leukemia chromosome. Methods Fifteen cases of suspected karyotype analysis on the basis of R-band fluorescence in situ hybridization. The bands and FISH results of the same mitotic phase were compared and analyzed. Results Four cases of BCR / ABL probe, four cases of PML / RARa probe, four cases of AML1 / ETO probe, two cases of IgH probe and one case of MLL probe. By comparing the banding results with FISH results, 9 cases of complex translocation were confirmed and pinpointed. 6 cases of karyotype results have been amended. Conclusions Continuous R banding and FISH have obvious advantages over traditional karyotyping and direct FISH in the identification of complex translocation. In the diagnosis of leukemia, detection of unknown anomalous chromosomes will have a broader application prospect.