Infrequent mutation of Waf1/p21 gene, a CDK inhibitor gene, in brain tumors.
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).
Tsumanuma
I
I
Department of Neurosurgery, Niigata University.
Tanaka
R
R
Abe
S
S
Kawasaki
T
T
Washiyama
K
K
Kumanishi
T
T
D000293:Adolescent; D000328:Adult; D000368:Aged; D001254:Astrocytoma / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction
C493956:CDKN1A protein, human; D050759:Cyclin-Dependent Kinase Inhibitor p21; D016213:Cyclins