应用多重套式RT-PCR检测儿童急性淋巴细胞白血病的融合基因  

Detection of fusion genes in childhood acute lymphoblastic leukemia by nested multiplex RT-PCR

作　　者：何军[1] 陈子兴[1] 薛永权[1] 李建琴[2] 何海龙[2] 黄益萍[2] 朱伶俐[2] 

机构地区：[1]苏州大学附属第一人民医院江苏省血液病研究所,江苏苏州215006 [2]苏州大学附属儿童医院儿科研究所

出　　处：《临床检验杂志》2005年第2期91-94,共4页Chinese Journal of Clinical Laboratory Science

基　　金：苏州市 2003年度科技发展计划社会发展基金招标项目(SZ0302)

摘　　要：目的　研究染色体结构易位所致的融合基因在儿童急性淋巴细胞白血病 (ALL)的表达。方法　采用多重套式RT PCR结合染色体R带或G带核型分析、流式细胞仪细胞免疫表型检测对 64例儿童ALL进行分析。结果　64例ALL患儿中 23例(36. 0% )具有 13种染色体畸变产生的融合基因,包括E2A/PBX1,E2A/HLF,TEL/AML1,TLS/ERG,MLL/AF4,MLL/AF9,MLL/AF10,MLL/AFX,MLL/AF6,MLL/ELL,dupMLL,TAL1D,HOX11。ALL患儿融合基因和染色体总畸变率为 67. 2%(43 /64)。结论　多重套式RT PCR结合染色体核型、免疫表型是儿童ALL临床诊断、治疗和预后判断的重要依据。Objective To investigate the expression of fusion genes resulted from chromosome translocation in childhood acute lymphoblastic leukemia (ALL).Methods For 64 children with ALL the expression of fusion genes was detected by multiplex RT-PCR,R band or G band of chromosome was identified by karyotyping,and immunophenotyping was detected by flow cytometry.Results Among the 64 patients 23(36.0%)were found to carry 13 fusion genes,including E2A/PBX1;E2A/HLF;TEL/AML1;TLS/ERG;MLL/AF4;MLL/AF9;MLL/AF10;MLL/AFX;MLL/AF6;MLL/ELL;dupMLL;TAL1D;HOX11.The total aberrance rates as a result of genetic abnormalities with fusion genes in the 64 childhood ALL was 67.2% (43/64).Conclusion The detection of fusion genes by nested multiplex RT-PCR combined with chromosome analysis and immunophenotyping may provide reliable information which should be helpful for the clinical diagnosis,therapy evaluation and prognosis prediction for childhood ALL.

关 键 词：融合基因 儿童急性淋巴细胞白血病 套式RT-PCR 治疗 RT—PCR 患儿 细胞免疫表型 染色体 畸变率 核型分析 

分 类 号：R733[医药卫生—肿瘤] R511[医药卫生—临床医学]