FISH检测意义未明单克隆γ球蛋白病患者13号染色体及p53基因缺失

目的了解意义未明单克隆γ球蛋白病(MGUS)患者13号染色体及p53基因缺失情况。方法磁珠分选系统(MACS)技术分选浆细胞后,采用D13S319和17p13 DNA特异性探针和荧光原位杂交(FISH)技术对23例MGUS患者的浆细胞进行13号染色体及p53基因缺失的检测。结果23例MGUS中4例(17．4％)有del(13q14),其阳性细胞率在19％-80％之间;未见p53基因缺失。结论FISH结合MACS是检测MGUS遗传学异常的有效方法,del(13q14)可能是疾病过程中的继发事件,其预后意义及其与疾病进展的关系有待进一步探讨。

Detection of deletion of chromosome 13 and p53 gene in monoclonal gammopathy of undetermined significance by fluorescence in situ hybridization

Objective To investigate the deletion of chromosome 13 and p53 gene in monoclonal gammopathy of undetermined significance (MGUS). Methods The plasma cells were selected by magnetic cell sorting (MACS) technique. Fluorescence in situ hybridization (FISH) was performed by using the D13S319 and 17p13 DNA specific probes for 13q14 and p53 gene to detect the deletion of 13ql4 deletion and p53 gene in 23 patients with MGUS. Results Out of the 23 patients,4(17.4% ) had 13ql4 deletion, and the number of the cells with 13ql4 deletion ranged from 19% to 80.0%. No p53 deletion was found in 8 patients. Conclusion FISH combined with MACS was an effective method to explore the cytogenetic abnormalities of MGUS,and del( 13ql4) might be a second event in the pathogenesis of MGUS. Further investigation for the correlation between del(13q14) and clinical significance or disease progression is necessary.