Frequency of M287T As3MT single nucleotide genetic polymorphism in an Iranian APL Patients and control group populations

Aims: To determine the frequency of the single nucleotide polymorphism M287T in exon 9 of the As3MT gene in Iranian APL patients and Control group to assess the difference in allele frequencies between them. Methods: Genotyping analysis was performed on 60 APL patients and 60 healthy subjects using the PCR-RFLP assay. Deviation from Hardy– Weinberg equilibrium and comparison of the observed genotype frequencies in various ethnic were tested using chi square Analysis. Level of statistical significance was considered as P < 0.05. Results: The homozygous CC, homozygous TT and heterozygous CT genotypes were observed 1.70% , 71.0% and 27.30% of APL patients.In control group the frequency of genotype CC, TT and TC , respectively were 3.3% , 80% and 16.7 % .The SNP rs11191439 passed the Hardy- Weinberg equilibrium chi-squared test with p-value > 0.05. Discussion &Conclusion: AS3MT(cyt19) is the main enzyme in As2O3 to methylated matabolites .The M287T polymorphism is considered to be related to inter-individual variation in the arsenic metabolism. in this study, although C allele frequency in APL patients (15.35%) were more than control Group(11.65%) , this difference in the frequency was not statistically significant p≥0.05.

کلیدواژه ها:

AS3MT ، Met287Thr ، APL