日本人におけるHNF4αの遺伝子多型の同定及びハプロタイプ構造の解析 Three Novel Single Nucleotide Polymorphisms of the Human Thiopurine S-Methyltransferase Gene in Japanese Individuals

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著者

    • GOTO Emi
    • Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
    • KONNO Yumiko
    • Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

抄録

  In this study, the entire coding sequence and the exon-intron junctions of the <i>thiopurine S-methyltransferase</i> (<i>TPMT</i>) gene from 200 Japanese individuals were screened for mutation. Three novel single nucleotide polymorphisms (SNPs) were identified-106G>A in exon 3 (Gly36Ser, <i>*20</i> 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, <i>*3C</i> 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, 2006-08-31 

    The Japanese Society for the Study of Xenobiotics

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各種コード

  • NII論文ID(NAID)
    10018043009
  • NII書誌ID(NCID)
    AA1162652X
  • 本文言語コード
    ENG
  • 資料種別
    SHO
  • ISSN
    13474367
  • データ提供元
    CJP書誌  CJP引用  J-STAGE 
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