Jornal de Oncologia Clínica e Experimental

MDM2 Gen Polymorphisms at Acute Myeloid Leukemia Patients

Ceren Tekin, Sibel Bayil Oguzkan, Mehmet Ozaslan, Handan Haydaroglu, Isik Didem Karagoz, Ibrahim Halil Kilic , Selin Büdeyri and Mustafa Pehlivan

Purpose: Leukemia is a malignant disease which is caused by bone marrow lymphopoietic or hematopoietic stem cells. Acute myeloid leukemia (AML) is a class of leukemia which indicates phenotypic and genotypic heterogeneity. MDM2 (Murine double minute 2 ) gene is a proto-oncogenes and previously studies in different cancer types shows that polymorphisms in MDM2 gene has connection with these cancer types.

Methods: In this study, it is aimed that to determine whether a relation between MDM2 gene 354 A/G and -410 T/G regions’s single nucleotide polymorphisms with Acute Myeloid Leukemia (AML) formation.To determine the polymorphism that turns Adenine nucleotide to guanine in the part of 354 A/G of MDM2 gene and in order to turns thymine nucleotide to guanine in the part of -410 T/G, the healthy 20 people were included to the study as a control group and 80 AML diagnosed patient. The blood which was collected from the study and control group isolated the DNA. Both two parties polymorphisms were studies RT-PCR.

Results: As a result of 354 A/G part polymorphism, it was determined that all individuals have a genotype of wild type (AA). When it was compared the MDM2 gene 354 A/G part polymorphic distribution, it was not observed any significant difference between the patient and control groups statistically (p<0.005). As a result of -410 T/G part polymorphism evaluation; the 19 of 80 patients (23.75) have wild type (TT), 25 of them (31.25%) have heterozygous (TG) genotype and 36 of them (45%) mutant (GG) genotype were determined. When it was compared to MDM2 gene -410 T/G part’s polymorphic distribution it was observed a significant difference between the patient and control groups statistically (p<0.05).

Conclusion: The MDM2 354 A/G region is not associated with acute myeloid leukemia. But the MDM2 SNP-410 in the promoter region polymorphisms and to play a role in the pathogenesis of acute myeloid leukemia has been identified. Beside this these polymorphisms could be a marker for early diagnosis and molecular analysis.