THE APPLICATION OF THE LIGHTCYCLER FLUORESECENCE PCR IN POLYMORPHISM ANALYSIS: INVESTIGATION OF THE MTHFR C677T POLYMORPHISM IN CHILDHOOD AND ADULT PATIENTS WITH MYELOID LEUKEMIA

The metylene tetrahydrofolate reductase (MTHFR) enzyme plays a key role in the folate metabolism The MTHFR gene displays two common genetic polymorphisms. Of these, the C677T polymorphism reduces the enzyme activity and has been implicated in cardiovascular diseases, neural tube defects in newborns and cancer risk. In the present study, we analysed the asociation of the common MTHFR C677T polymorphism with leukemia risk in children and adults patients with myeloid leukemia in a case-control study. The analysis was performed in LightCycler flouoresecence PCR with melting curve analysis. In children, the frequency of the heterozygote genotype (677CT, 39 %), in adult patients the frequency of the both heterozygote (41 %) and homozygote variant genotypes (677TT, 5 %) were found lower than those in the control group (heterozygote 45 %, homozygote variant 11 %). However, the differences were statistically not significant (p>0.05). Our results, although statistically not significant, indicate, consistently with literature, that the heterozygote and/or homozygote variant genotypes are less frequent in leukemia patients. These findings suggest a role for the MTHFR polymorphism for leukemia carcinogenesis.

Keywords: MTHFR C677T polymorphism, myeloid leukemia, LightCycler fluorescence PCR