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间期荧光原位杂交检测骨髓增生异常综合征8号染色体三体 被引量:24

Detection of trisomy 8 with interphase fluorescence in situ hybridization in myelodysplastic syndromes
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摘要 目的 探讨间期荧光原位杂交 (FISH)技术在检测骨髓增生异常综合征 (MDS) 8号染色体三体 (8三体 )中的价值。方法 同时应用常规细胞遗传学 (CC)和荧光素SpectrumGreen直接标记的 8号染色体着丝粒特异性探针间期FISH检测 6 9例MDS患者和 6名正常人骨髓的 8三体。结果 分析2 0 0个间期细胞 ,以 >3%的 3个绿色杂交信号定为阳性标准。 6 9例MDS患者中 ,10例CC和FISH检测均为 8三体 ,其中 7例 8三体的检出率FISH低于CC ;1例CC检测为 8三体 ,而FISH检测阴性 ;5 8例CC检测无 8三体的患者中 ,采用FISH检出 7例 8三体 ,其中 2例分别含 2和 3个标志染色体 ,4例为正常核型。结论 间期FISH是检测MDS 8三体的有价值的技术 ,特别是在检测核型正常和在标志染色体的识别中是CC的重要补充。 Objective To explore the value of interphase fluorescence in situ hybridization(FISH) in the detection of trisomy 8 in myelodysplastic syndromes(MDS).Methods Conventional cytogenetics(CC) and interphase FISH using SpectrumGreen labelled chromosome 8 centromere specific probe were simultaneously carried out to detect trisomy 8 in 69 MDS and 6 normal individuals.Results Two hundred interphase cells were counted and cells with three green hybridization spots >3% was assigned.Eleven cases displayed trisomy 8 by CC and were confirmed in 10 by FISH.In 7 cases,the percentage of trisomy 8 cells was significantly lower by FISH than by CC.Seven cases displayed trisomy 8 by FISH in 58 cases who did not show trisomy 8 by CC.Of the 7 cases, two had 2 and 3 marker chromosomes respectively,4 had normal karyotypes.Conclusions Interphase FISH was a useful method for the detection of trisomy 8 in MDS,especially in patients with normal karyotype or marker chromosome.It was a important complement to CC.
出处 《中华血液学杂志》 CAS CSCD 北大核心 2000年第4期179-181,共3页 Chinese Journal of Hematology
关键词 骨髓增生异常综合征 荧光原位杂交 细胞遗传学 Myelodysplastic syndrome Fluorescence in situ hybridization Cytogenetics
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  • 1张之南,血液病诊断及疗效标准(第2版),1998年,258页

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