摘要

The tumor suppressor gene p53 play general role in cell cycle control, the initiation of apoptosis, and in deoxyribonucleic acid (DNA) repair. The human p53 gene is mutated and accumulated in more than 50% of cancers. Codon 72 exon 4 polymorphism (Arg72Pro) of the p53 gene has been implicated in cancer risk. Our objective was to investigate the possible association between p53 Arg72Pro polymorphism and susceptibility to breast cancer among Iranian population. The p53 Arg72Pro genotypes were determined by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analysis in 135 breast cancer cases and 140 controls. The PCR products were digested with BstUI restriction enzyme and the DNA fragments were then resolved by electrophoresis in 2% agarose gel. Out of the 135 breast cancer samples, 70 (51.85%) samples were heterozygous (Arg/Pro), 52 (38.52%) samples homozygous for arginine (Arg/Arg) and 13 (9.63%) samples homozygous for proline (Pro/Pro). The frequencies of the three p53 genotypes; Arg/Pro, Arg/Arg and Pro/Pro in controls were 58.57, 25.72 and 15.71%, respectively. Hemozygosity for Arg/Arg of p53 codon 72 is potentially one of the genetic risk factors for breast cancer. The p53 codon 72 Arg/Arg polymorphism may be used as a stratification marker in screening individuals at a high risk of breast cancer.

  • 出版日期2011-9