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急性白血病FLT3基因突变的检测及临床意义
引用本文:贾红英,刘红. 急性白血病FLT3基因突变的检测及临床意义[J]. 医学检验与临床, 2008, 19(5)
作者姓名:贾红英  刘红
作者单位:山东省淄博市中心医院,淄博,255036;山东省淄博市中心医院,淄博,255036
摘    要:为探讨FLT3基因及FLT3内部串联重复(internal tandemduplication ITD)突变与急性白血病的关系及临床意义,采用PCR结合DNA测序技术分析32例急性髓系白血病(AML),18例急性淋巴细胞白血病(ALL)患者骨髓单个核细胞中FLT3基因及FLT3/ITD突变,分析FLT3/ITD阳性患者的临床特征及疗效。结果表明:32例AML患者中5例FLT3/ITD(15.6%)阳性,其中7例M3中1例、10例M4中1例、10例M5中3例。而18例ALL患者中未检测到FLT3/ITD突变。对其中2例特征性突变测序结果显示,ITD位于外显子14,长度为27~63bp,为单纯串联重复,FLT3/ITD序列包括2个SH2-结合结构域(YEYV与YEY-DLK),其中一例出现氨基酸的替换,其ITD序列及氨基酸的替换均具有独特性,均未改变FLT3阅读框架。临床研究表明FLT3/ITD阳性AML患者外周血白细胞数高(P<0.01),骨髓原始细胞比例高(P<0.01),化疗后有低缓解率趋势。结论:FLT3/ITD突变多见于M5患者,为框内突变。FLT3/ITD阳性的AML患者外周血白细胞数高,骨髓原始细胞...

关 键 词:基因  FLT3  内部串联重复  白血病  急性

Detection of FLT3 Gene Mutation in acute leukemia and It's Clinical Significance
Jia Hongying,Liu Hong. Detection of FLT3 Gene Mutation in acute leukemia and It's Clinical Significance[J]. Medical Laboratory Science and, 2008, 19(5)
Authors:Jia Hongying  Liu Hong
Affiliation:Jia Hongying,Liu Hong (The Department of Laboratory,ZiBo Central Hospital,ZiBo,255036,China)
Abstract:To study the FLT3 gene expreslon and its intemal tande duplication in acute leukemia and its clinical significance,polymerase chain reaction(PCR) and DNA sequencmg were used to detect the FLT3/ITD mutation in blast cell of bone marrow from 50 patients with acute leukemia,including 32 acute myeoloid leukemia(AML) cases,18 acute lympoid leukemia(ALL) cases,The resultes showed that the expression of FLT3/ITD gene were detected in 5 of 32(15.6%) AML patients,including 1/7 of M3,1/10 of M4 and 3/10 of M5.More FL...
Keywords:FLT3
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