Emin Kürekçi, Dilara Fatma Akın, Deniz Aşlar-Öner, Nejat Akar

Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia

In this study we aim to determine the genotype distribution and allelefrequencies of common TPMT (*2, *3A, *3B and *3C) polymorphisms inTurkish children with acute leukemia. The study population consisted of 169patients aged between 1 and 15 years who were admitted to Losante PediatricHematology and Children’s Hospital with the diagnosis of acute leukemia.Genotyping of TPMT polymorphisms was screened with real-time PCR usingfluorescence melting curve detection analysis. We found that the frequenciesof four allelic variants of TPMT are *2 (238 G>C) (0,0%), *3A (460G>Aand 719A>G) (1.7%), *3B (460G>A) (1,7%) and *3C (719A>G) (2.4%).Frequency of TPMT alleles increases the efficacy of leukemia treatment. Thus,TPMT genotyping can be useful for optimizing 6-MP therapy

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