Investigation of MDM2 Gene Promoter Polymorphism (SNP309) in Patients with Acute Myeloid Leukemia in Khuzestan Province

Document Type : Original Article


1 Master of Biology. Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

2 Department of Biology,Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz , Iran

3 Assistant Professor of Biology. Department of Pathology, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.


Background and Objective: Acute myeloid disease is a genetic disorder resulting from a change in the natural mechanisms of the blood precursor cells such as proliferation and differentiation. Mouse Double Minute 2 (MDM2) is an oncoprotein with E3 ubiquitin ligase activity that acts as a potent negative regulator for P53. The most well-known MDM2 gene polymorphism is SNP309 polymorphism. Substitution of G nucleotide instead of the T at 309 position increases the expression level of the MDM2 gene. Increasing the MDM2 level decrease the activity of p53 which can lead to cancer.
Subjects and Methods: This study was performed on 91 AML blood samples and 115 control blood samples in Khuzestan province. Different genotypes of 309 position of MDM2 genes were determined using PCR-RFLP and Sequeing method.
Results: The results show that there is statistically significant association between MDM2 SNP309 polymorphism and AML.
Conclusion: In this study the frequency of TT, TG, and GG genotypes was 15%, 41% and 43% in AML group and 62%, 22% and 14% in control group respectively. The genotypic distribution of this polymorphism may be strongly associated with AML.


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