双链DNA测序检测白血病Flt-3和PTPN11基因突变检测的研究  

Double chain DNA sequencing for detection of leukemia Flt-3 and PTPN11 gene mutation detection

作　　者：李志阳[1] 杨素冰[1] 李歆[1] 罗琼[2] 郭敏[2] 

机构地区：[1]广州医学院附属肿瘤医院输血科,广东广州510095 [2]广东省人民医院血液科,广东广州510080

出　　处：《国际检验医学杂志》2013年第8期953-954,共2页International Journal of Laboratory Medicine

摘　　要：目的使用双链DNA测序方法检测不同年龄白血病患者和不同类型白血病患者Flt-3和PTPN11基因突变特点。方法通过设计特异性引物,扩增出Flt-3和PTPN11高突变位点,并通过Sanger的酶降解测序法对扩增出片段进行测序,并与天然序列进行比对,总结白血病Flt-3和PTPN11基因突变特点,并计算不同位点突变频率。结果 0～<18岁患者中Flt-3和PTPN11突变频率明显高于18岁以上的患者(P<0.05)。急、慢性淋巴细胞性白血病Flt-3和PTPN11基因突变频率明显高于急性和慢性粒细胞性白血病(P<0.05)。结论 Flt-3(14号外显子、14号内含子和15号外显子)和PTPN11(3、8和13号外显子)突变可能与0-18岁白血病患者和淋巴性白血病发生和进展相关。Objective To detect Flt-3 and PTPNll gene mutation characteristics in different age group and different types of leukemia by double-stranded DNA sequencing method. Methods Through the design of specific primers,amplify Flt-3 and PTPNll high mutation location,which were sequenced using the Sanger enzyme degradation sequencing, with the sequence results aligned. Fit-3 and PTPNll gene mutation characteristics of leukemia were summarized,and the different mutation frequency were calculat- ed. Results The Flt-3 and PTPNll mutation frequency of 0-〈18 years old patients was significantly higher than that of over 18 years old patients（P〈0.05）. Flt-3 and PTPNll gene mutation frequency of acute and chronic lymphocytic leukemia was signifi-cantly higher than that of acute and chronic myelogenous leukemia （P〈0.05）. Conclusion Flt-3（exon 14,intron 14 and exon 15 ） and PTPN11 （exon 3,8 and 13 ）mutations may he associated with leukemia incidence and progression in 0-18 years old patients or of lymphoblastic leukemia.

关 键 词：白血病 基因 年龄 

分 类 号：R733.7[医药卫生—肿瘤]