title: Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals.
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.
authors.affiliation: Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan.
authors.forename: Takamitsu
authors.initials: T
authors.lastname: Sasaki
authors.forename: Emi
authors.initials: E
authors.lastname: Goto
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Konno
authors.forename: Masahiro
authors.initials: M
authors.lastname: Hiratsuka
authors.forename: Michinao
authors.initials: M
authors.lastname: Mizugaki
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D007564:Japan; D008780:Methyltransferases / Q000235:genetics*; D008969:Molecular Sequence Data; D009691:Nucleic Acid Denaturation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D004247:DNA; D008780:Methyltransferases; C022745:thiopurine methyltransferase