A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations

Clin Chim Acta. 2004 Mar;341(1-2):49-53. doi: 10.1016/j.cccn.2003.10.029.

Abstract

Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs that are commonly used to treat a wide range of conditions. It is now well established that interpatient variation in sensitivity to these drugs is due to point mutations in the TPMT gene. The mutant alleles TPMT*2 (238G>C), TPMT*3A (460G>A, 719A>G), TPMT*3B (460G>A), and TPMT*3C (719A>G) account for 80-95% of TPMT deficiency observed in Caucasian populations. In this paper, we describe a novel, multiplex, allele-specific polymerase chain reaction (PCR) method that detects the 238G>C, 460G>A, and 719A>G mutations, allowing for the simultaneous identification of TPMT*2 and TPMT*3 alleles. The assay is internally controlled, robust, and does not require the use of restriction endonucleases. Therefore, the assay is not prone to erroneous readings due to incomplete restriction digestion, as documented for existing PCR restriction fragment length polymorphism (RFLP) assays of TPMT.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Azathioprine / adverse effects
  • Azathioprine / therapeutic use
  • DNA / genetics
  • Humans
  • Immunosuppressive Agents / adverse effects
  • Immunosuppressive Agents / therapeutic use
  • Inflammatory Bowel Diseases / drug therapy
  • Inflammatory Bowel Diseases / genetics
  • Mercaptopurine / adverse effects
  • Mercaptopurine / therapeutic use
  • Methyltransferases / genetics*
  • Mutation / genetics
  • Oligonucleotide Probes
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide / genetics
  • Reproducibility of Results

Substances

  • Immunosuppressive Agents
  • Oligonucleotide Probes
  • DNA
  • Mercaptopurine
  • Methyltransferases
  • thiopurine methyltransferase
  • Azathioprine