title: Mutation analysis of hematopoietic cell phosphatase gene in acute leukemia.
abstract: The hematopoietic cell phosphatase (HCP or SHP-1), the SH2 domain contain protein tyrosine phosphatase, is a crucial negative regulator in the process of hematopoietic cell development, proliferation and receptor-mediated mitogenic signaling pathways, and its mutation is responsible for the over-expansion and inappropriate activation of myelomonocytic population in motheaten mice. The aim of the study was to evaluate the role of the HCP gene in leukemogenesis. Bone marrow and/or peripheral blood from 32 acute myeloid leukemia (AML) patients, 9 acute lymphocytic leukemia (ALL) patients, 8 leukemia cell lines and 50 normal controls were analyzed by reverse transcription-polymerase chain reaction (RT-PCR) based on single strand conformation polymorphism (SSCP) and sequencing. 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. In conclusion, mutation of HCP gene is an infrequent genetic aberration which may only play a role in pathogenesis of a small part of leukemia, however, its significance needs to be further clarified.
authors.affiliation: Department of Hematology, The Second Hospital, Hebei Medical University, Shijiazhuang 050000, China.
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Luo
authors.forename: Ze-Lin
authors.initials: ZL
authors.lastname: Liu
authors.forename: Hong-Ling
authors.initials: HL
authors.lastname: Hao
authors.forename: Fu-Xu
authors.initials: FX
authors.lastname: Wang
authors.forename: Zuo-Ren
authors.initials: ZR
authors.lastname: Dong
authors.forename: Ohno
authors.initials: O
authors.lastname: Ryuzo
mesh_terms: D000208:Acute Disease; D045744:Cell Line, Tumor; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007938:Leukemia / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C509249:PTPN6 protein, human; D053824:Protein Tyrosine Phosphatase, Non-Receptor Type 6; D017027:Protein Tyrosine Phosphatases