A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals.

نویسندگان

  • Masahiro Hiratsuka
  • Mutsumi Kudo
  • Nanami Koseki
  • Shuta Ujiie
  • Mika Sugawara
  • Rina Suzuki
  • Takamitsu Sasaki
  • Yumiko Konno
  • Michinao Mizugaki
چکیده

The genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been associated with increased toxicity of methotrexate (MTX), a folic acid antagonist that is widely used to treat cancer and immunosuppressive disorders such as rheumatoid arthritis. In this study, we analyzed all the exons and exon/intron junctions of the MTHFR gene from 200 Japanese individuals. We detected a novel single nucleotide polymorphism (SNP) 148C>T (Arg46Trp) in exon 1. The allele frequency of this polymorphism in the Japanese population appears to be extremely low (0.25%).

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عنوان ژورنال:
  • Drug metabolism and pharmacokinetics

دوره 20 5  شماره 

صفحات  -

تاریخ انتشار 2005