liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Explaining TPMT genotype/phenotype discrepancy by identification of a novel sequence variant, TPMT*27
Linköping University, Department of Medicine and Health Sciences, Clinical Pharmacology . Linköping University, Faculty of Health Sciences.ORCID iD: 0000-0002-2809-7591
Linköping University, Department of Physics, Chemistry and Biology. Linköping University, The Institute of Technology.
Linköping University, Department of Medicine and Health Sciences, Clinical Pharmacology . Linköping University, Faculty of Health Sciences.
Linköping University, Department of Physics, Chemistry and Biology. Linköping University, The Institute of Technology.ORCID iD: 0000-0002-7642-9263
Show others and affiliations
2009 (English)In: 13th International Symposium on Purine and Pyrimidine metabolism in man, 2009Conference paper, Published paper (Refereed)
Abstract [en]

Thiopurine methyltransferase (TPMT) is a polymorphic enzyme involved in the metabolism of thiopurine drugs. Owing to polymorphisms in the TPMT gene (TPMT*2-*22), the enzyme activity varies interindividually. Patients with reduced TPMT activity may develop adverse reactions when treated with standard doses of thiopurines. This work focuses on a TPMT genotype/phenotype discrepancy found in a patient during routine testing. The patient displayed very low TPMT enzyme activity and she was genotyped by pyrosequencing as being heterozygous for the 460G>A and 719A>G polymorphisms (TPMT*3A). Complete sequencing in combination with haplotyping of the TPMT gene revealed a novel sequence variant, 500C>G, on one allele and TPMT*3A on the other allele, giving rise to the novel genotype TPMT*3A/*23. When investigating the patient's relatives, they too had the TPMT*3A/*23 genotype in combination with low enzyme activity. We conclude that this novel variant allele affects enzyme activity, as the individuals carrying it had almost undetectable TPMT activity.

Place, publisher, year, edition, pages
2009.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-21181OAI: oai:DiVA.org:liu-21181DiVA: diva2:240856
Available from: 2009-09-30 Created: 2009-09-30 Last updated: 2013-10-04

Open Access in DiVA

No full text

Authority records BETA

Lindqvist Appell, MalinWennerstrand, PatriciaSkoglund, KarinLars-Göran, MårtenssonPeterson, Curt

Search in DiVA

By author/editor
Lindqvist Appell, MalinWennerstrand, PatriciaSkoglund, KarinLars-Göran, MårtenssonPeterson, Curt
By organisation
Clinical Pharmacology Faculty of Health SciencesDepartment of Physics, Chemistry and BiologyThe Institute of TechnologyDepartment of Oncology UHL
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

urn-nbn

Altmetric score

urn-nbn
Total: 156 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf