c-kit point mutation of extracellular domain in patients with myeloproliferative disorders.
作者： Yoshio Nakata , Akiro Kimura , Osamd Katoh , Kuniko Kawaishi , Hideo Hyodo
DOI: 10.1111/J.1365-2141.1995.TB05364.X
关键词:
摘要: Summary. c-kit is a tyrosine kinase receptor whose ligand stem cell factor (SCF). Gene alteration of the extracellular domain was analysed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in 25 patients with myeloproliferative disorders (MPD). In N-terminal part domain, mobility shifts indicating sequence were detected three patients, two primary myelofibrosis (PMF) and one chronic myelogenous leukaemia (CML). The subsequent sequencing revealed same point mutations at codon 52 causing amino acid substitution (Asp Asn). To our knowledge this first report mutation found human fresh tumour cells.
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