间期荧光原位杂交检测骨髓增生异常综合征20q-染色体异常

为了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)20号染色体长臂部分缺失异常中的价值，应用绿色荧光素SpectrumGreen直接标记的酵母人工染色体(YAC)克隆912C3(跨越20号染色体长臂q12断裂点)作为探针，对52例MDS患和5名正常对照的骨髓细胞进行单色间期FISH检测，每例分析200—300个细胞，以1个绿色荧光杂交信号＞7．16％作为阳性标准，并与常规细胞遗传学(conventional cytogenetics，CC)检测结果相比较。结果显示，52例MDS患中FISH检测7例(13．5％)为阳性，CC检测其中4例为阳性，3例为阴性。结论：YAlC912C3为探针的间期FISH技术是检测MDS患20q-染色体异常的有效方法，是CC检测的一个重要补充。

Detection of 20q- Chromosome Abnormality in Myelodysplastic Syndrome by Interphase Fluorescence In Situ Hybridization

In order to explore the value of interphase fluorescence in situ hybridization(FISH) in the detection of partial deletion of the long arm of chromosome 20 (20q -) in patients with myelodysplastic syndrome(MDS), spectrumGreen fluorescein directly labeled yeast artificial chromosome (YAC) clone 912C3 which spans the breakpoint cluster region in band 20q12 was used as probes to perform interphase FISH on the marrow cells from 52 cases of MDS and 5 normal controls. 200 to 300 cells were scored for each case and cases which had cells with a green hybridization signal>7.16% were defined as 20q - positive. The results of FISH were compared with those of conventional cytogenetics (CC) assay. The results showed that among 52 cases of MDS, 7 (13.5%) cases were positive by FISH, however, of which, 4 cases were positive and the other 3 cases were negative by CC assay. It is concluded that YAC912C3 and interphase FISH providing a powerful technique in the detection of 20q - in MDS is an important complement to CC assay.