摘要
目的探讨多种遗传学技术在检测儿童急性单核系白血病混合谱系白血病基因(mixed lineage leukemia,MLL)重排中的应用.方法联合应用间期荧光原位杂交(fluorescence in situ hybridization,FISH)、R显带骨髓染色体核型分析和逆转录PCR技术对86例急性单核系白血病患儿进行MLL基因重排检测.结果86例患儿中FISH检测到26例有阳性杂交信号,MLL基因重排检出率为30.2%.R显带核型分析检出涉及11q23的相互易位及断裂14例,其它异常5例,检出率为22.1%.多重逆转录PCR检测到MLL易位产生的融合基因12例,检出率为14.0%.3种方法阳性检出率差异有统计学意义(P<0.05).结论联合应用FISH、R显带骨髓染色体核型分析和逆转录PCR技术对急性白血病患儿进行检测,可提高MLL基因重排的检出率,为临床诊断、治疗和预后判断提供重要依据.
Objective To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia(AML).Methods Eighty six children with AML were analyzed by fluorescence in situ hybridization(FISH),chromosomal karyotyping and multiplex reverse transcriptionPCR(RT PCR).Results Cross signals were detected by FISH in 26 cases,and 30.2%were detected with MLL gene rearrangements.R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations,which yielded an overall detection rate of 22.1%.Multiple RTPCR has detected 12 fusion genes produced by the MLL translocation,which yielded a detection rate of 14.0%.A significant difference was found in the detection rate of the three methods(P<0.05).Conclusion Combined use of FISH,chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis,treatment and prognosis of AML.
作者
赵鼎
李瑞
张耀东
宋继军
张振华
王美烨
王超杰
王金
Zhao Ding;Li Rui;Zhang Yaodong;Song Jijun;Zhang Zhenhua;Wang Meiye;Wang Chaojie;Wang Jin(Henan Provincial Key Laboratory for Genetics and Metabolic Diseases in Childhood,Children’s Hospital Affiliated of Zhengzhou University,Henan Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou,Henan 450018,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第11期1077-1080,共4页
Chinese Journal of Medical Genetics
基金
河南省科技攻关项目(182102310415)
河南省医学科技攻关计划(联合共建项目)(2018020631).
关键词
MLL基因
急性单核系白血病
荧光原位杂交
逆转录PCR
MLL gene
Acute mononuclear leukemia
Fluorescence in situ hybridization
Reverse transcription PCR
作者简介
通信作者:宋继军,Email:15003998000@139.com
