The Study of Acute Lymphoid Leukemia and MDM2 Gene Promoter Polymorphism (SNP309) in Patients in Khuzestan Province

Leukemia is a type of malignancy of the hematopoietic tissue that accompanies the incomplete development and proliferation of white blood cells. In acute lymphoid leukemia (ALL), many lymphocytes that have not yet completely evolved, are impaired and increasingly found in peripheral blood and bone marrow. MDM2 is a proto-oncogene with E3 ubiquitin ligase activity that acts as a potent negative regulator for P53. Polymorphism in the position 309 of promoters of the MDM2 gene is the most widely known polymorphism of this gene, where the replacement of the T nucleotide by G at this site leads to increased expression of the MDM2 gene. Increasing the level of protein MDM2 reduces the activity of P53 proteins, which can result in cancer. The objective of the present study is to determine the relationship between the frequency of single nucleotide polymorphism at 309 in MDM2 promoter and ALL cancer in ALL patients in Khuzestan province. In this study, polymorphism of 309 MDM2 genes was evaluated using PCR-RFLP and sequencing in 115 blood samples from all patients and 115 healthy blood samples in Khuzestan province. The results indicate that there was statistically significant association between 309 MDM2 polymorphisms and all patients. The frequency of TT, TG, and GG genotypes was 10%, 42% and 48% in all groups and 63%, 22% and 15% in the control group, respectively. With regard to the p-value presented for all three genotypes (p=0.001), there was a significant relationship between the genotypic distribution of this polymorphism with all disease. The present study demonstrates that MDM2 promoter polymorphism at 309 position has a significant relationship with acute myeloid leukemia in Khuzestan province.