急性白血病细胞HCP基因的突变分析  

Mutation analysis of HCP gene in acute leukemia

作　　者：罗建民[1] 刘泽林[1] 郝洪岭[1] 董作仁[1] 王福旭[1] 大野竜三 

机构地区：[1]河北医科大学第二医院血液科,石家庄050000 [2]日本国爱知县癌中心

出　　处：《临床血液学杂志》2004年第5期271-273,共3页Journal of Clinical Hematology

摘　　要：目的 :造血细胞磷酸酶 (Hematopoieticcellphosphatase ,HCP)在造血细胞发育、增殖及受体介导的有丝分裂信号传导通路中发挥关键的负调节作用 ,在motheaten小鼠中其突变可导致粒 单核细胞严重的过度聚积和功能紊乱。本研究旨在评价HCP基因突变在急性白血病发病中的作用。方法 :利用RT PCR、SSCP及DNA序列分析技术检测了 4 1例急性白血病、8株白血病细胞系及 5 0例正常对照骨髓或外周血标本中HCP基因表达及突变情况。结果 :RT PCR显示所有标本中都有HCP基因表达 ,仅在 1例急性淋巴细胞白血病细胞中发现错义突变 ,发生在HCP基因氨基末端的SH2结构域 ;此外 ,分别在HCP基因的 6 9、85、86和 2 6 6密码子存在多态性。结论 :HCP基因突变在急性白血病中较少见 。Objective:The hematopoietic cell phosphatase (HCP),also called SHP-1,the SH2 domain contain protein tyrosine phopsphatase,is a crucial negative regulator in the process of hematopoietic cells development, proliferation and receptor-mediated mitogenic signaling pathways.Its mutation is responsible for the over-expansion and inappropriate activation of myelomonocytic population in motheaten mice.The aim of the study is to evaluate the role of the HCP gene in leukemogenesis.Method:Bone marrow and/or peripheral blood from 32 acute myeloid leukemia ( AML ) patients,9 acute lymphocytic leukemia (ALL) patients,8 cell lines and 50 normal controls were analyzed by reverse transcription-polymerase chain reaction (RT-PCR) based single strand conformation polymorphism (SSCP) and sequencing.Result:RT-PCR showed that all samples expressed HCP gene.Only one missense mutation at codon 225 (AAC to AGC, Asn to Ser) within N-terminal SH2 domain was found in an ALL patient. In addition, four polymorphic base substitutions were detected in codon 69, 85, 86 and 266, respectively.Conclusion:Our results indicate that mutation in the HCP gene are infrequent genetic aberrations and may only play a role in a small percentage of leukemia, but its significance needs to be further clarified.

关 键 词：HCP基因 白血病 急性 基因突变 

分 类 号：R773.71[医药卫生—眼科]