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  

Detection of trisomy 8 with interphase fluorescence in situ hybridization in myelodysplastic syndromes

作　　者：李建勇[1] 潘金兰 薛永权[1] 吴春华 谢新[1] 过宇[1] 阮长耿[1] 

机构地区：[1]苏州医学院附属第一医院,江苏省血液研究所,215006 [2]江西省抚州地区医院

出　　处：《中华血液学杂志》2000年第4期179-181,共3页Chinese Journal of Hematology

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.

关 键 词：骨髓增生异常综合征 荧光原位杂交 细胞遗传学 

分 类 号：R551.3[医药卫生—血液循环系统疾病]