Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals

Drug Metab Pharmacokinet. 2006 Aug;21(4):332-6. doi: 10.2133/dmpk.21.332.

Abstract

In this study, the entire coding sequence and the exon-intron junctions of the thiopurine S-methyltransferase (TPMT) gene from 200 Japanese individuals were screened for mutation. Three novel single nucleotide polymorphisms (SNPs) were identified-106G>A in exon 3 (Gly36Ser, *20 allele), 967A>G in 3'-untranslated region, and -87C>T in intron 8. The allele frequencies were 0.003 for 106G>A, 0.003 for 967A>G, and 0.010 for IVS8 -87C>T. In addition, the three known SNPs, 474T>C (Ile158Ile), 719A>G (Tyr240Cys, *3C allele), and IVS4 +35C>T were detected at frequencies of 0.299, 0.010, and 0.421, respectively.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • DNA / genetics
  • Exons / genetics
  • Humans
  • Japan
  • Methyltransferases / genetics*
  • Molecular Sequence Data
  • Nucleic Acid Denaturation
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • DNA
  • Methyltransferases
  • thiopurine methyltransferase