荧光原位杂交技术对骨髓增生异常综合征患者染色体异常的检测分析

目的:分析荧光原位杂交(FISH)技术对骨髓增生异常综合征(MDS)5、7、8、20号染色体异常检出率,并与常规细胞遗传学分析(CCA)进行比较。方法:收集48例MDS患者骨髓标本,CCA采用骨髓短期培养法及G带核型分析。FISH采用间期FISH,选取针对5、7、8、20号染色体的不同探针组合。χ2检验比较两种方法检出率。结果:CCA对5、7、8、20号染色体异常检出率分别为8.33%、12.50%、6.25%、12.51%,总的异常检出率为39.58%;FISH对5、7、8、20号染色体异常检出率分别为12.50%、16.67%、10.42%、16.67%,总的异常检出率为56.25%。两法检出率差异无统计学意义(P>0.05),但FISH检测时间(2～3天)明显短于CCA(10～14天)。结论:FISH检测MDS患者5、7、8、20号染色体异常是CCA的重要补充,并明显缩短检测时间。

Detection of -5/5q-,-7/7q-,+8 and 20q- in Myelodysplastic Syndromes by Fluorescence in Situ Hybridization

Objective: To analysis the chromosome abnormality detection rate of 5,7,8,20 in Myelodysplastic Syndrome (MDS) with fluorescence in situ hybridization (FISH) technology and compare wih conventional cytogenetic analysis(CCA). Method: Bone marrow cells from 48 patients were analyzed with CCA and FISH. CCA was used with short-term culture and G-banding karyotype analysis . FISH was used with different probe sets of 5,7,8,20. χ2 test was used to compare two methods of detection rate. Results: Using CCA, the chromosomal abnormalities detection rate of 5,7,8,20 were 8.30%, 12.50%, 6.25%, 12.50%, and the total rate was 39.58%; the chromosomal abnormalities detection rate of 5,7,8,20 were 12.50%, 16.67%, 10.42%, 16.67%, and the total rate was 56.25% by FISH. The detection rate was no significant difference between CCA and FISH, but the detection time with FISH was significantly shorter than the CCA. Conclusion: FISH could help the diagnosis and prognosis of chromosome abnormality detection of 5,7,8,20,and shorten the detection time significantly.