骨髓增生异常综合征的-7/7q-染色体异常的检测

Detection of monosomy 7 or 7q- in cases of myelodysplastic syndrome

目的 探讨间期荧光原位杂交 (fluorescence in situ hybridization,FISH)技术在检测骨髓增生异常综合征 (myelodysplastic syndrome,MDS) - 7/ 7q-染色体异常中的价值。方法 同时应用常规细胞遗传学 (conventional cytogenetics,CC)和以荧光素 Spectrum Red直接标记的 7q32单一序列 DNA为探针的间期 FISH技术 ,检测 46例 MDS患者和 10名对照者。每例分析 2 0 0个间期细胞 ,以 1个红色荧光杂交信号大于 7% (大于 x± 3s)为阳性标准。结果 46例 MDS患者中 ,3例 CC和 FISH检测均发现 - 7/7q- ;43例 CC检测无 - 7/ 7q-异常 ,FISH却检出 6例有 - 7/ 7q-异常。结论 间期 FISH对检测MDS- 7/ 7q-染色体异常是十分有用的 ,其敏感性高于

Objective: To investigate the value of interphase fluorescence in situ hybridization (FISH) in the detection of monosomy 7 (-7)or deletion of long arm of chromosome 7(7q-) in the cases of myelodysplastic syndrome (MDS). Methods: Forty-six cases of MDS and 10 normal controls were studied simultaneously by conventional karyotype analysis and interphase FISH technique using SpectrumRed directly labeled DNA specific probe for 7q32. Two hundred interphase cells were analyzed for each case and the cells with one red hybridization spot >7% were regarded as positive. Results: Three cases displayed -7/7q- by conventional cytogenetics(CC) and were confirmed by interphase FISH. Six cases in 43 cases who did not show -7/7q- by CC displayed -7/7q- by interphase FISH. Conclusion: Interphase FISH is very useful for the detection of -7 or 7q- in MDS and it is more sensitive than CC.