Five Novel Single Nucleotide Polymorphisms in the EPHX1 Gene Encoding Microsomal Epoxide Hydrolase

Kisho SHISEKI; Masaya ITODA; Yoshiro SAITO; Yukiko NAKAJIMA; Keiko MAEKAWA; Hideo KIMURA; Yu-ichi GOTO; Osamu SAITOH; Masaaki KATOH; Teiichi OHNUMA; Mitsuru KAWAI; Kenji SUGAI; Taisuke OHTSUKI; Chieko SUZUKI; Narihiro MINAMI; Shogo OZAWA; Jun-ichi SAWADA

doi:10.2133/dmpk.18.150

SNP Communication

Five Novel Single Nucleotide Polymorphisms in the EPHX1 Gene Encoding Microsomal Epoxide Hydrolase

Kisho SHISEKI, Masaya ITODA, Yoshiro SAITO, Yukiko NAKAJIMA, Keiko MAEKAWA, Hideo KIMURA, Yu-ichi GOTO, Osamu SAITOH, Masaaki KATOH, Teiichi OHNUMA, Mitsuru KAWAI, Kenji SUGAI, Taisuke OHTSUKI, Chieko SUZUKI, Narihiro MINAMI, Shogo OZAWA, Jun-ichi SAWADA

著者情報

Kisho SHISEKI
Project team for Pharmacogenetics, National Institute of Health Sciences
Masaya ITODA
Project team for Pharmacogenetics, National Institute of Health Sciences
Yoshiro SAITO
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences
Yukiko NAKAJIMA
Project team for Pharmacogenetics, National Institute of Health Sciences
Keiko MAEKAWA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences
Hideo KIMURA
National Institute of Neuroscience, National Center for Neurology and Psychiatry
Yu-ichi GOTO
National Institute of Neuroscience, National Center for Neurology and Psychiatry
Osamu SAITOH
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Masaaki KATOH
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Teiichi OHNUMA
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Mitsuru KAWAI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Kenji SUGAI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Taisuke OHTSUKI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Chieko SUZUKI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Narihiro MINAMI
National Institute of Neuroscience, National Center for Neurology and Psychiatry
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Shogo OZAWA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Pharmacology, National Institute of Health Sciences
Jun-ichi SAWADA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

キーワード: EPHX1, novel SNPs, non-synonymous alteration, drug metabolism

ジャーナルフリー

2003 年 18 巻 2 号 p. 150-153

DOI https://doi.org/10.2133/dmpk.18.150

詳細

抄録

Five novel single nucleotide polymorphisms (SNPs) were found in the EPHX1 gene from 96 Japanese epileptic patients. The detected SNPs were as follows:
1) SNP, MPJ6_EX1009; GENE NAME, EPHX1 ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-CCTCACTTCAGTG/ACTGGGCTTTGCC-3'.
2) SNP, MPJ6_EX1013; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TCCGCAGCCAGGG/CAGGACGACAGCA-3'.
3) SNP, MPJ6_EX1026; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-GTTCTCCCTGGAC/TGACCTGCTGACC-3'.
4) SNP, MPJ6_EX1028; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-AGGCAGGGGGACG/AGCCAGTCTTGGG-3'.
5) SNP, MPJ6_EX1030; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TGAAAAGTGGGTG/AAGGTTCAAGTAC-3'.
The frequencies were 0.016 for MPJ6_EX1028 (IVS8+54G>A) and 0.005 for the other SNPs. The SNP MPJ6_EX1013 (130G>C) results in an amino acid alteration (E44Q). The other three SNPs in the coding region, MPJ6_EX1009 (30G>A), MPJ6_EX1026 (1056C>T), and MPJ6_EX1030 (1239G>A) result in synonymous changes (V10V, D352D, and V413V, respectively).

責任著者(Corresponding author)

J-STAGEへの登録はこちら（無料）