白血病Flt3基因近膜区突变的检测和分析  

Analysis of mutation in the juxtamembrane domain of Flt3 gene in leukemia

作　　者：赵敏[1] 王小华[1] 李铁臣[2] 赵跃华[2] 

机构地区：[1]皖南医学院附属芜湖市第二人民医院血液内科,安徽芜湖241001 [2]皖南医学院遗传研究室,安徽芜湖241001

出　　处：《癌变．畸变．突变》2011年第4期294-297,共4页Carcinogenesis,Teratogenesis & Mutagenesis

摘　　要：目的:检测白血病Flt3基因近膜区突变,探讨与白血病发生、发展的关系。方法:采用PCR、PCR-SSCP和DNA测序方法,对60例白血病患者骨髓标本Flt3基因外显子14、15进行检测,以20名健康志愿者骨髓标本作为对照。结果:在60例白血病患者中,发现8例Flt3-ITD突变,3例Flt3-L576P点突变,其中1例合并有Flt3基因内含子14缺失突变。结论:白血病Flt3-L567P点突变是近膜区新发现的点突变,可能与白血病的发生、发展相关。OBJECTIVE：To identify the relationship between the pathogenesis of leukemia and Flt3 gene by detecting the mutations in juxtamembrane domain coded by Flt3.METHODS：We tested exonsl4,15 of Flt3 gene using PCR,PCR-SSCP and gene sequence in 60 leukeamia patients＇ bone marrow samples.RESULTS：8 Flt3-ITD mutations,another 3 Flt3-L576P point mutations were found in juxtamembrane domain in 60 patients,including 1 patient with a deletion of intron 14.CONCLUSION：Flt3-L576P is a new point mutation site,which might be associated with the pathogenesis and development of leukemia.

关 键 词：FLT3 白血病 近膜区 突变 

分 类 号：Q754[生物学—分子生物学]