光谱核型分析技术在白血病研究中的初步应用

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一,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。

Primary application of spectral karyotyping in leukemia

Objective To establish a spectral karyotyping (SKY) technique and explore the value of SKY in leukemia research. Methods SKY technique was conducted on 2 samples of peripheral blood from 2 healthy volunteers, then on the samples from 8 patients with leukemia, including chronic myelocytic leukemia (CML) and acute myelocytic leukemia (AML) confirmed by R-banding. In addition, four patients underwent dual fusion-fluorescence in situ hybridization (DF-FISH) to detect the mixed lineage leukemia (MLL), PML/RARa, and BCR/ABL fusion genes. By comparing the results of SKY, R-band karyotyping, and DF-FISH, the stability and reliability of SKY was judged. Results All 10 samples were successfully hybridized and karyotyped. The 2 cases of healthy volunteers showed normal karyotypes, thus, a specific SKY technique was successfully established. In the 8 cases of leukemia patients, SKY identified aberrations including 9q-,t(9;22),t(15;17) and the complex karyotype 47,XY,+9?ins(1;5)(q23;q23),t(6;7)(q23?;p13), in addition, the SKY technique detected some number abnormities. The results of SKY confirmed the results of R-band karyotyping and DF-FISH; moreover, the SKY technique provided more accurate karyotypes.Conclusion With high stability, accuracy, and sensitivity, the SKY technique established by this study can be applied in leukemia research.