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.
Materials & Methods: In this study, polymorphism of 309 MDM2 genes was evaluated using PCRRFLP and sequencing in 115 blood samples from all patients and 115 healthy blood samples in
Khuzestan province.
Results: 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.
Conclusion: The present study demonstrates that MDM2 promoter polymorphism at 309 position has a
significant relationship with acute myeloid leukemia in Khuzestan province