Polymorphisms of TPMT gene in patients with inflammatory bowel disease

Zoko, Nikolina (2012) Polymorphisms of TPMT gene in patients with inflammatory bowel disease. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

Thiopurine drugs are used in the treatment of inflammatory bowel disease. Their dose often has to be reduced or therapy has to be canceled because some patients develop adverse drug reactions. Blood tests and genetic tests are regularly carried out to detect side effects at an early stage. Since thiopurines need to be intracellularly changed to have a therapeutic effect, the enzymes involved in their metabolism are being studied and one of them is thiopurine methyltransferase (TPMT). Significant interindividual differences which exist in activity of this enzyme are mostly a consequence of single nucleotide polymorphisms found in the TPMT gene and TPMT*2, TPMT*3A and TMPT*3C alleles are the ones that are studied in routine clinical trials. Different genotyping methods are used to diagnose TPMT deficiency, such as TaqMan® real time-PCR method. According to the results obtained in this study we can conclude that the TPMT*3A allele is the most common mutant allele among the Croatian population, which correlates with results of other Caucasian populations. Further studies are needed to fully understand the regulation of TPMT activity.

Item Type: Thesis (Diploma thesis)
Keywords: AZA, 6-MP, 6-TG, 6-TGN, adverse drug reactions, dosing, TaqMan® method
Supervisor: Božina, Nada
Co-supervisor: Marijanović, Inga
Date: 2012
Number of Pages: 43
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Grozdana Sirotic
Date Deposited: 29 May 2014 11:42
Last Modified: 29 May 2014 11:42
URI: http://digre.pmf.unizg.hr/id/eprint/1929

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