荧光原位杂交技术在R-显带后玻片上的应用

The Utilities of Fluorescence in Situ Hybridization Technique on R-banding Treated Slides

目的探讨荧光原位杂交技术(F ISH)在R-显带后玻片上的应用。方法对17例初诊为M 3患者,应用PM L/RAR a探针在R显带标本玻片上直接进行荧光原位杂交检测。结果6例显带质量差的标本中5例确认为PM L/RAR a阳性,1例阴性;2例疑似复杂易位的标本均确证为累及第三条染色体的t(15;17)复杂易位,并精确定位;9例核型检出t(15;17)的标本均证实分子水平上存在PM L/RAR a融合基因。结论R显带联合F ISH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F ISH检测相比具有明显的优势。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 utilities of fluorescence in situ hybridization technique（FISH） on R-banding treated slides. Methods FISH was performed with PML/RARa probes on R-banding treated slides of 17 untreated M3 patients. Results Five positive specimens and one negative specimens were revealed in six specimens of poor quality R-banding slides. Complex aberrant translocations were revealed in 2 specimens and were mapped. The PML/RARa fusion gene was revealed in 9 specimens with t （15; 17） karyotype. Conclusion The R-banding with FISH techniques as compared with conventional karyotype analysis and direct FISH test in analysis of complex aberrant translocation. They have widly applied future for unrecognized chromosome abnormalities.