Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls

摘要: AIM: p53-Inducible ribonucleotide reductase small subunit 2 (p53R2) encodes a 351-amino-acid peptide, which catalyzes conversion of ribonucleoside diphosphates to the corresponding deoxyribonucleotides required for DNA replication and repair. A recent study reported that point mutation (G/T) in p53 binding sequence colon cancer cell line completely impaired p53R2 protein activity. METHODS: We screened gene coding regions regulatory region contains 100 patients with colorectal adenoma control subjects using PCR, cold SSCP, direct sequencing. RESULTS: Although we did not identify genetic variation all nine exons, four regulatory-region variants were found, three single nucleotide polymorphisms (SNPs) (nt 1 789 C/G, nt 928 A/G, 933 T/C), one was 20 bp insertion replaced ATTTT between 831 835. Additionally, determined frequency these recently concluded case-control incident sporadic adenomas (163 cases 210 controls). CONCLUSION: more detailed functional characterizations remain be undertaken, polymorphic sites may useful identifying alleles associated mis-splicing, additional transcript factors and, generally, cancer-susceptibility association studies.