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目的建立光谱核型分析技术(SKY),并初步探讨SKY在白血病中的应用价值。方法SKY检测2例健康志愿者建立SKY技术,并选择8例已进行R显带核型分析的白血病患者进行SKY检测,其中4例还分别进行了MLL、PML/RARa、BCR/ABL等基因的双融合荧光原位杂交(DF-FISH)检测。将R显带核型及DF-FISH结果进行比较,考察SKY技术的稳定性和可靠性。结果10例标本的SKY分析均获成功。2例健康志愿者均示正常核型,8例白血病患者中,SKY分析分别发现9q-,t(9;22),t(15;17),及复杂核型47,XY,+9?ins(1;5)(q23;q23),t(6;7)(q23?;p13)和一些数量异常。这些结果均证实了R显带及DF-FISH的结论,并有更精确的定位和补充。结论本研究建立的光谱核型分析技术具有较高的稳定性、可靠性和精确性,可应用于白血病的染色体研究。
Objective To establish spectroscopic karyotype analysis (SKY) and to explore the value of SKY in leukemia. Methods SKY was detected in 2 healthy volunteers by SKY assay and 8 leukemia patients who had been analyzed by R-banding karyotype were selected for SKY test. Four patients were also examined for MLL, PML / RARa, BCR / ABL Double fusion fluorescence in situ hybridization (DF-FISH) detection. The karyotype of R and karyotype of DF-FISH were compared to investigate the stability and reliability of SKY technology. Results SKY analysis of 10 cases were successful. Two healthy volunteers showed normal karyotype. In 8 leukemia patients, 9q-, t (9; 22), t (15; 17) and complex karyotype 47, XY, + 9? (1; 5) (q23; q23), t (6; 7) (q23?; P13) and some number of anomalies. These results confirm the conclusion of R-banding and DF-FISH with more precise positioning and complementing. Conclusion The spectral karyotyping technique established in this study has high stability, reliability and accuracy and can be applied to the chromosome research of leukemia.