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  

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

作　　者：申咏梅[1] 薛永权[1] 李建勇[1] 过宇[1] 潘金兰[1] 吴亚芳[1] 

机构地区：[1]苏州大学附属第一医院,江苏省血液研究所,215006

出　　处：《中华血液学杂志》2001年第10期517-519,共3页Chinese Journal of Hematology

摘　　要：目的　评价间期荧光原位杂交 (fluorescenceinsituhybridization ,FISH)在检测骨髓增生异常综合征 (MDS) - 5 / 5 q -染色体异常中的价值。方法　应用荧光素SpectrumRed直接标记的 5 q31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 2 0 0～ 30 0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 (2 7.1% )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 χ2 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 .0 5 )。结论　间期FISH是检测MDS - 5 / 5 q -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 。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.

关 键 词：骨髓增生异常综合征 荧光原位杂交 染色体异常 细胞遗传学 

分 类 号：R551.3[医药卫生—血液循环系统疾病]