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URL: http://rjms.iums.ac.ir/article-1-3531-en.html
Background: Most studies have shown that there are association between the development and malignancy of brain tumors and tumor suppressor genes and oncogenes. The aim of this project was to investigate the P53 gene mutations in exon 8 in patients with astrocytoma type’s brain tumor.
Methods: In this present survey, The DNA isolation from 30 samples of brain tissue was done by phenol-chloroform protocols. After PCR amplification for p53 at exon 8, screening by SSCP (Single -Strand Conformation Polymorphism) was performed to determine the mobility shifts. Samples that have shift were sequenced.
Results: A malignant missense nucleotide changes (g.13851A>G) was found at exon 8 in a sample with grade 4 of astrocytoma. The sequence changes at protein level of this mutations is K291E.
Conclusion: Based of the study finding, the above nucleotide change which was found within the protein's DNA binding domain could be a pathogenic mutation. This mutation can prevent tumor suppressing function of p53 and possibly causes cancer. This may be important in early diagnosis and gene therapy of brain tumors.
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