急性早幼粒细胞白血病JAK1基因突变的研究

摘要

目的：探讨JAK1基因在急性早幼粒细胞白血病（APL）患者中的突变情况及其临床意义。方法收集2005年2月—2010年1月收治的86例初治APL患者标本，采用基因组DNA-PCR及测序方法分析骨髓单个核细胞中的JAK1基因的突变情况及临床特征。结果86例患者仅在1例中发现同义突变，此外，分别在JAK1基因的277、655和677密码子存在多态性，这些多态性及同义突变均为首次发现。结论 JAK1基因突变在APL中罕见，在其发病中可能起较小作用，首次发现多态性及同义突变的作用有待进一步研究。%Objective To investigate JAK1 mutations in patients with acute promyelocytic leukemia (APL) and the clinical characteristics of patients with JAK1 mutants.Methods In this study, we collected 86 specimens of new diagnosed and admitted APL patients from Feb. 2005 to Oct. 2010, the JAK1 gene mutations of bone marrow mononuclear cells and clinical features were analyzed by genomic DNA-PCR.Results Of 86 patients, only 4 patients were found harboring novel JAK1 SNV (Single Nucleotide Variant), including 3 heterozygous SNPs and 1 synonymous point mutations.These polymorphisms and mutations werefi rst reported.Conclusion Our results indicate that JAK1 mutation was not frequently occurred and may only play a role in a small percentage APL patients, but its signifi cance needs to be further clarifi ed.