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

Abstract

Akın DF, Aşlar-Öner D, Kürekçi E, Akar N. Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia. Turk J Pediatr 2018; 60: 147-152. In this study we aim to determine the genotype distribution and allele frequencies of common TPMT (*2, *3A, *3B and *3C) polymorphisms in Turkish children with acute leukemia. The study population consisted of 169 patients aged between 1 and 15 years who were admitted to Losante Pediatric Hematology and Children`s Hospital with the diagnosis of acute leukemia. Genotyping of TPMT polymorphisms was screened with real-time PCR using fluorescence melting curve detection analysis. We found that the frequencies of four allelic variants of TPMT are *2 (238 G > C) (0,0%), *3A (460G > A and 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.

• Authors: Dilara Fatma Akın, Deniz Aşlar-Öner, Emin Kürekçi, Nejat Akar
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) Vol. 60 Issue 2 Pg. 147-152 ( 2018) ISSN: 2791-6421 [Electronic] Turkey
• PMID: 30325120 (Publication Type: Journal Article)

Chemical References

• Methyltransferases
• TPMT protein, human

Topics

• Acute Disease
• Adolescent
• Alleles
• Child
• Child, Preschool
• Female
• Gene Frequency
• Genotype
• Humans
• Infant
• Leukemia (genetics)
• Male
• Methyltransferases (genetics)
• Polymorphism, Genetic
• Real-Time Polymerase Chain Reaction
• Turkey