title: The mutation status of PAX3 and p53 genes in medulloblastoma.
abstract: The p53 and PAX3 genes were examined by PCR, SSCP and DNA sequencing methods in 50 and 58 paraffinembedded medullablastoma tissues, respectively. Four novel mutations were identified among these samples in exon 5 of the p53 gene. Two tumours showed a G to A transition. One heterozygous mutation was located on codon 158 which changed the encoded amino acid from Arg (CGC) to His (CAC). Another was located on codon 174 and replaced AGG (Arg) with AAG (Lys). There was a single base deletion of guanine located on codon 160 in another two samples, causing a frameshift. This is the first study of mutation status of PAX gene in medulloblastoma wherein only one polymorphism was identified in the gene. The polymorphism changed codon 43 from GGC to GGT but both encoded glycine.
authors.affiliation: Department of Biological Sciences, Manchester Metropolitan University, UK.
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: P
authors.initials: P
authors.lastname: Kumar
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Whalley
authors.forename: M
authors.initials: M
authors.lastname: Schwarz
authors.forename: G
authors.initials: G
authors.lastname: Malone
authors.forename: A
authors.initials: A
authors.lastname: Haworth
authors.forename: S
authors.initials: S
authors.lastname: Kumar
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D016158:Genes, p53; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics*; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse