Alterations in exon 4 of the p53 gene in gastric carcinoma

作者: Tara Shepherd , Dawn Tolbert , Jacqueline Benedetti , John Macdonald , Grant Stemmermann

DOI: 10.1016/S0016-5085(00)70356-8

关键词: GenotypePoint mutationGeneticsGenotype frequencyExonMolecular biologyAllele frequencyAdenocarcinomaAlleleFrameshift mutationBiology

摘要: Abstract Background & Aims: Our long-term goal was to evaluate the role of p53 in prognosis gastric cancer. We previously showed a discrepancy between expression and presence mutations when only exons 5-9 were examined. then evaluated exon 4. Methods: DNA sequenced from 217 cancers detect 4 alterations. Codon 72 examined by restriction enzyme digestion. Results: Mutations present 3.2% tumors. In addition, 2 polymorphic sites found at codons 36 72. Polymorphisms codon patients. contrast, polymorphism very frequent. The genotype frequency arg/arg (54%), arg/pro (33%), pro/pro (14%). site varied with race ( P = 0.001): 64% whites had genotype, compared 24% blacks. difference site, sex, or histological tumor type not statistically significant 0.067). Conclusions: There are several alterations cancers. These include rare polymorphism. most common change is polymorphism, which differs significantly race. more may explain why prone develop cardiac cancer, whereas proline allele blacks they antral Further studies required determine whether affects patient predisposition GASTROENTEROLOGY 2000;118:1039-1044

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