Three Novel Single Nucleotide Polymorphisms of the Human Thiopurine S-Methyltransferase Gene in Japanese Individuals

• SASAKI Takamitsu

  Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

• GOTO Emi

  Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

• KONNO Yumiko

  Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

• HIRATSUKA Masahiro

  Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

• MIZUGAKI Michinao

  Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

抄録

  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.<br>

収録刊行物

• Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ

  Ｄｒｕｇ　Ｍｅｔａｂｏｌｉｓｍ　ａｎｄ　Ｐｈａｒｍａｃｏｋｉｎｅｔｉｃｓ 21 (4), 332-336, 2006

  日本薬物動態学会

キーワード

• thiopurine S-methyltransferase
• genetic polymorphism
• Japanese

詳細情報

• CRID: 1390282680155473024
• NII論文ID: 10018043009
• NII書誌ID: AA1162652X
• DOI: 10.2133/dmpk.21.332
• ISSN: 18800920
• ISSN: 13474367
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307047?httpAccept=text/xml
• Web Site: http://api.elsevier.com/content/article/PII:S1347436715307047?httpAccept=text/plain
• Web Site: https://search.jamas.or.jp/link/ui/2007071244
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可