日本人における Denaturing HPLC を用いた Thiopurine S-Methyltransferase 遺伝子の新規SNPスクリーニング Novel Genetic Variations and Haplotypes of Hepatocyte Nuclear Factor 4α (HNF4A) Found in Japanese Type II Diabetic Patients

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著者

    • SAITO Yoshiro
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • MAEKAWA Keiko
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • SAEKI Mayumi
    • Project Team for Pharmacogenetics, National Institute of Health Sciences
    • KAMATANI Naoyuki
    • Division of Genomic Medicine, Department of Advanced Biomedical Engineering and Science Tokyo Women's Medical University
    • YASUDA Kazuki
    • Department of Metabolic Disorder, Research Institute, International Medical Center of Japan
    • SAWADA Jun-ichi
    • Project Team for Pharmacogenetics, National Institute of Health Sciences

抄録

  Thirty-nine single nucleotide variations, including 16 novel ones, were found in the 5′ promoter region, all of the exons and their surrounding introns of <i>HNF4A</i> in 74 Japanese type II diabetic patients. The following novel variations were identified (based on the amino acid numbering of splicing variant 2): -208G>C in the 5′ promoter region; 1154C>T (A385V) and 1193T>C (M398T) in the coding exons; 1580G>A, 1852G>T, 2180C>T, 2190G>A, and 2362_2380delAAGAATGGTGTGGGAGAGG in the 3′-untranslated region, and IVS1+231G>A, IVS2-83C>T, IVS3+50C>T, IVS3-54delC, IVS5+173_176delTTAG, IVS5-181_-180delAT, IVS8-106A>G, and IVS9-151A>C in the introns. The allele frequencies were 0.311 for 2362_2380delAAGAATGGTGTGGGAGAGG, 0.054 for 1580G>A, 0.047 for 1852G>T, 0.020 for IVS1+231G>A, 0.014 for IVS9-151A>C, and 0.007 for the other 11 variations. In addition, one known nonsynonymous single nucleotide polymorphism, 416C>T (T139I), was detected at a 0.007 frequency. Based on the linkage disequilibrium profiles, the region analyzed was divided into three blocks. Haplotype analysis determined/inferred 10, 16, and 12 haplotypes for block 1, 2, and 3, respectively. Our results on <i>HNF4A</i> variations and haplotypes would be useful for pharmacogenetic studies in Japanese.<br>

収録刊行物

  • Drug metabolism and pharmacokinetics  

    Drug metabolism and pharmacokinetics 21(4), 337-346, 2006-08-31 

    The Japanese Society for the Study of Xenobiotics

参考文献:  22件

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各種コード

  • NII論文ID(NAID)
    10018043031
  • 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  J-STAGE 
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