Thiopurin s-metil-transzferáz gén vizsgálatának jelentosége egy eset kapcsán

Translated title of the contribution: Importance of thiopurine s-methyltransferase gene test

C. Sipeky, A. Maász, Gréta Tarlós, K. Komlósi, Pollá Éva, B. Melegh

Research output: Contribution to journalArticle

Abstract

Thiopurine s-methyltransferase enzyme is responsible for the metabolism of immunosuppressant thiopurines, which are used in infl ammatory bowel diseases, acute lymphoblastic leukemia and autoimmune diseases. Because of the relative narrow therapeutic index of thiopurines serious or life threatening side effects can occur. A total of 28 variant alleles of the gene coding for the thiopurine s-methyltransferase enzyme are responsible for altered catalytic activity of the enzyme. Patients with one non-functional (heterozygous) allele have intermediate, while those with two non-functional (homozygous) alleles have low enzyme activity. Using polymerase chain reaction/restriction fragment length polymorphism and direct DNA sequencing the authors determined the G238C, G460A and A719G polymorphisms of the thiopurine s-methyltransferase gene in a child with Crohn's disease who developed thiopurineinduced severe agranulocytosis. The presence of the G460A and A719G polymorphic alleles in homozygous forms were detected which corresponded to the *3A variant allele. This variant has been shown to be associated with lower enzyme activity and low amount of the enzyme resulting in thiopurine toxicity and agranulocytosis. These fi ndings underline the need for genotyping of the thiopurine s-methyltransferase variants prior to thiopurine treatment.

Original languageHungarian
Pages (from-to)191-194
Number of pages4
JournalOrvosi Hetilap
Volume153
Issue number5
DOIs
Publication statusPublished - Feb 1 2012

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thiopurine methyltransferase
Alleles
Enzymes
Genes
Agranulocytosis
Immunosuppressive Agents
DNA Sequence Analysis
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Crohn Disease
Restriction Fragment Length Polymorphisms
Autoimmune Diseases
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Thiopurin s-metil-transzferáz gén vizsgálatának jelentosége egy eset kapcsán. / Sipeky, C.; Maász, A.; Tarlós, Gréta; Komlósi, K.; Éva, Pollá; Melegh, B.

In: Orvosi Hetilap, Vol. 153, No. 5, 01.02.2012, p. 191-194.

Research output: Contribution to journalArticle

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