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造血细胞磷酸酶 (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。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。RT PCR显示所有标本中都有HCP基因表达 ,仅在 1例急性淋巴细胞性白血病细胞中发现一错义突变 ,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 ,在白血病发病中可能起较小作用 ,需进一步研究澄清。
Hematopoietic cell phosphatase (HCP) plays a key negative regulator in hematopoietic cell development, proliferation, and receptor-mediated mitotic signaling pathways, and its mutation in motheaten mice can lead to severe overgrowth and function of monocytes disorder. This study aimed to evaluate the role of HCP gene mutations in the pathogenesis of acute leukemia. RT-PCR, SSCP and DNA sequence analysis were used to detect HCP gene expression and mutation in 41 cases of acute leukemia, 8 leukemia cell lines and 50 normal control bone marrow or peripheral blood samples. RT-PCR showed that HCP gene was expressed in all the samples. A missense mutation was found in only one case of acute lymphoblastic leukemia cells, which occurred in the SH2 domain of the amino terminal of HCP gene. In addition, 85, 86 and 26 6 codon polymorphisms. Conclusion: HCP gene mutation is rare in acute leukemia, may play a minor role in the pathogenesis of leukemia, and needs further study to clarify.