白血病Flt3基因编码的近膜区点突变的检测和内含子14缺失的分析

目的 对白血病Flt3基因编码的近膜区突变点进行检测,研究其与白血病发生、发展的关系.方法 应用聚合酶链反应(PCR)、聚合酶链反应单链构象多态性(PCR/SSCP)和DNA测序方法,对60例白血病患者外周血和部分骨髓标本Flt3基因外显子14、15进行检测.结果 在60例白血病患者中,3例白血病Flt3-L576P发生点突变,其中1例合并有Flt3基因内含子14缺失突变.结论 白血病Flt3-L567点突变是近膜区(JM)新发现的点突变,其发生与临床白血病的发生、发展具有相关性.

Analysis of point mutation and deletion of intron 14 in the juxtamembrane domain of Flt3 gene in leukemia

Objective To investigate the relationship between the pathogenesis of leukemia and Flt3 gene by detecting the point mutations in juxtamembrane domain coding by Flt3. Methods The exons 14, 15 of Flt3 gene were detected using PCR, PCR/SSCP and gene sequence in 60 leukemia patients with peripheral blood and bone marrow samples. Results We found Flt3-L576P point mutation in 3 cases in juxtamembrane domain in 60 patients, including 1 patient had a deletion of intron 14. Conclusion Flt3-L576 was a new point mutation site, which way be associated with the pathogenesis and development of leukemia.