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The mutation status of PAX3 and p53 genes in medulloblastoma

Wang, Weiguang and Kumar, Patricia and Wang, Weizhi and Whalley, J. and Schwarz, Martin and Malone, Geraldin and Haworth, Andrea and Kumar, Shant (1998) The mutation status of PAX3 and p53 genes in medulloblastoma. ISSN 0250-7005

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Abstract

The p53 and PAX3 genes were examined by PCR, SSCP and DNA sequencing methods in 50 and 58 paraffin-embedded 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 this gene. The polymorphism changed codon 43 from GGC to GGT but both encoded glycine.

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