Lack of mutations in the P53 gene exons 5 to 8 in ataxia-telangiectasia.
Alterations of the TP53 tumor suppressor gene are present in various human malignancies and in the dominantly inherited Li-Fraumeni syndrome. Recently, a cell cycle checkpoint pathway involving p53 and GADD45 has been identified as defective in ataxia-telangiectasia. Using single strand conformation polymorphism analysis of PCR products, we looked for TP53 mutations in DNA of patients with AT. We did not find any mutation in 6 patients, suggesting that TP53 mutations are not directly involved in the cancer susceptibility observed in AT.
INSERM U 301, IGM, Paris, France.
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P
Jonveaux
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R
Berger
D001260:Ataxia Telangiectasia / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D016158:Genes, p53; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation