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

Takamitsu Sasaki, Emi Goto, Yumiko Konno, Masahiro Hiratsuka, Michinao Mizugaki

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)332-336
Number of pages5
JournalDrug metabolism and pharmacokinetics
Volume21
Issue number4
DOIs
Publication statusPublished - 2006 Aug
Externally publishedYes

ASJC Scopus subject areas

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

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