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Explaining TPMT gen...
Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23
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- Lindqvist Appell, Malin, 1976- (författare)
- Linköpings universitet,Hälsouniversitetet,Klinisk farmakologi
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- Skoglund, Karin, 1982- (författare)
- Linköpings universitet,Hälsouniversitetet,Klinisk farmakologi
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- Karlgren, Anna, 1982- (författare)
- Linköpings universitet,Hälsouniversitetet,Klinisk farmakologi
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- Peterson, Curt (författare)
- Linköpings universitet,Klinisk farmakologi,Hälsouniversitetet
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- Söderkvist, Peter, 1953- (författare)
- Linköpings universitet,Hälsouniversitetet,Avdelningen för medicinsk cellbiologi
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- Kidhall, Irene (författare)
- Danderyds sjukhus
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- Almer, Sven, 1953- (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Gastroenterologi och hepatologi,Endokrin- och magtarmmedicinska kliniken US
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(creator_code:org_t)
- 2007
- 2007
- Engelska.
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Ingår i: Pharmacogenetics and Genomics. - 1744-6872. ; 17:10, s. 891-895
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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. © 2007 Lippincott Williams & Wilkins, Inc.
Nyckelord
- haplotypes
- single mucleotide polymorphism
- thiopurine methyltransferase
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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