title: Detection of DNA polymorphisms and point mutations of high-affinity nerve growth factor receptor (TrkA) in human neuroblastoma.
abstract: We have studied nerve growth factor (NGF) receptors in 63 neuroblastoma tissues. We found DNA polymorphisms of TrkA consisting in C-->T transitions in tyrosine kinase domain at 6773, 7232 and 7301 nucleotides. Both C/T alleles were detected in tumors belonging to patients at stages 1, 2, 3 and 4 but not in 4S that expresses only the allele with C-->T. Furthermore, we detected a GT transversion resulting in a Gly-->Val substitution in a stage 4 and a stage 4S samples. We report the first evidence of TrkA polymorphism and point mutations in neuroblastoma.
authors: Laboratory of Oncology, G. Gaslini Institute, Genoa, Italy.
authors: P
authors: P
authors: Scaruffi
authors: R
authors: R
authors: Cusano
authors: M
authors: M
authors: Dagnino
authors: G P
authors: GP
authors: Tonini
mesh_terms: D006801:Humans; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000096:biosynthesis; D012334:RNA, Neoplasm / Q000096:biosynthesis; D017475:Receptors, Nerve Growth Factor / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D012333:RNA, Messenger; D012334:RNA, Neoplasm; D017475:Receptors, Nerve Growth Factor