Analysis of polymorphisms in the TPMT gene in children with acute leukemia in the Krasnoyarsk Territory

Introduction. Leukemia accounts for 40 % of all malignant neoplasms under the age of 15 years in children. Determination of the genetic portrait of patients with acute lymphoblastic leukemia (ALL) helps to identify polymorphisms in the genes responsible for the metabolism of drugs included in standard treatment protocols.

Materials and methods. 51 children with confirmed diagnosis of acute lymphoid leukemia (ALL) were included in the analysis of the frequency of polymorphism of TPMT gene. The detection of polymorphisms TPMT*2, TPMT*3A and TPMT*3 was performed using a set of reagents “AmpliSens® Pyroskrin” & “FARMA-screen-2b”.

Results. Polymorphisms in the TPMT gene of 51 patients were found in 6 (11.8 %) children. Of these, 4 patients have variant alleles TPMT*3A and TPMT*3C and 2 patients have only TPMT*3C. Of the 6 patients with TPMT polymorphism, two have a translocation t(12;21).

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