Infrequent Mutation of Waf1/p21 Gene, a CDK Inhibitor Gene, in Brain Tumors

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Abstract
Possible mutations of the Waf1/p21 gene, a cyclin-dependent kinase (CDK) inhibitor gene, were investigated in biopsy specimens of 28 brain tumors using polymerase chain reaction (PCR)-single strand conformation polymorphism and nucleotide sequence analysis. There were 15 astrocytic tumors, six medulloblastomas, five pineal parenchymal tumors, and two neuroblastomas. A mutation was detected in exon 2, which comprises 90% of the cording region including the CDK inhibitory domain, in only two samples. A missense mutation was detected at codon 33 in rare PCR clones from an astrocytic tumor and a silent mutation was detected at codon 35 in a medulloblastoma. Therefore, mutation of the Waf1/ p21 gene is infrequent in these brain tumors. Examination of deoxyribonucleic acid (DNA) from normal subjects and paired DNA of brain tumor patients observed a polymorphism at codon 31, which encodes either Ser (AGC) or Arg (AGA).

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