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目的 评价组合探针荧光原位杂交 (fluorescenceinsitehybridization ,FISH)在检测骨髓增生异常综合征 (myelodysplasticsyndrome ,MDS)常见染色体异常中的价值。 方法 应用YAC2 48F5 ( 5q3 1)、YAC93 8G5 ( 7q3 2 )、CEP8、YAC912C3 ( 2 0q12 ) 4种DNA探针 ,对核型未知的 2 0例MDS患者进行FISH检测 -5 / 5q -、-7/ 7q -、+8、2 0 q -等常见染色体异常 ,并与常规细胞遗传学分析结果相比较。 结果 2 0例MDS患者中 ,组合探针FISH检出 13例有常见染色体异常 (其中 5例 +8,1例 -5 / 5 q -,5例 2 0q -,1例 5 q-合并 2 0 q -,复杂异常 1例 ) ;而常规细胞遗传学发现 5例常见染色体异常 ,1例 +2 1,复杂异常 1例 ,标记染色体 1例 ,正常 5例。结论 组合探针FISH是筛查MDS患者常见染色体异常的有效手段。
Objective To evaluate the value of combined probe fluorescence in situ hybridization (FISH) in the detection of common chromosomal abnormalities in myelodysplastic syndrome (MDS). Methods Four DNA probes, YAC2 48F5 (5q3 1), YAC93 8G5 (7q3 2), CEP8 and YAC912C3 (20q12), were used to detect FISH 5/5 q -, -7 / 7q -, + 8,2 0 q - and other common chromosomal abnormalities, and compared with conventional cytogenetic analysis results. Results Of 20 MDS patients, 13 cases had common chromosomal abnormalities detected by FISH (5 cases +8 cases, -5 cases / 20 cases, 5 cases / 20 cases, 5 cases / q -, complex abnormalities in 1 case); conventional cytogenetics found 5 cases of common chromosomal abnormalities, 1 case +2 1, complex abnormalities in 1 case, marker chromosome 1 cases, normal 5 cases. Conclusion Combined probe FISH is an effective method to screen common chromosomal abnormalities in patients with MDS.