间期荧光原位杂交检测骨髓增生异常综合征-5/5q-染色体异常

目的 评价间期荧光原位杂交（fluorescence in situ hybridization,FISH)在检测骨髓增生异常综合征（MDS）－5/5q-染色体异常中的价值。方法 应用荧光素SpectrumRed直接标记的5q31单一序列特异性DNA探针，对48例MDS患者和10名正常对照者的骨髓细胞进行间期FISH检测，每例分析200－300个细胞，以1个红色荧光杂交信号＞6％（x^- 3SD)为阳性标准，并与常规细胞遗传学检测结果相比较。结果 48例MDS患者中，间期FISH检测13例（27．1％）为阳性，其中7例常规细胞遗传学检测也为阳性，6例为阴性；经配对x^2检验，间期FISH和常规细胞遗传学两种方法阳性检出率差异有显著性（P＜0．05）。结论 间期FISH是检测MDS－5／5q-染色体异常的有力的分子遗传学工具，其敏感性高于常规细胞遗传学检测法，是常规细胞遗传学检测法的一个重要补充。

Detection of -5/5q- chromosome abnormality in myelodysplastic syndromes by interphase fluorescence in situ hybridization

Objective To evaluate the value of interphase fluorescence in situ hybridization(FISH) in the detection of acquired complete and partial deletion of chromosome 5(-5/5q-) in myelodysplastic syndromes(MDS). Methods Marrow cells from 48 MDS patients and 10 normal controls were studied by interphase FISH using SpectrumRed directly labelled DNA specific probe for 5q31, 200 to 300 cells were scored for each case and cells with a red hybridization signal>6% were defined as -5/5q- positive. Results In 48 MDS patients, 13 were positive for interphase FISH,of whom, 7 were positive and 6 were negative for conventional cytogenetics(CC). The difference in the percentage of positive cells detected by the two methods was statistically significant(P<0.05). Conclusion Interphase FISH is more sensitive than CC for the detection of -5/5q- in MDS.