Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase.
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).
Shiseki
Kisho
K
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Itoda
Masaya
M
Saito
Yoshiro
Y
Nakajima
Yukiko
Y
Maekawa
Keiko
K
Kimura
Hideo
H
Goto
Yu-ichi
Y
Saitoh
Osamu
O
Katoh
Masaaki
M
Ohnuma
Teiichi
T
Kawai
Mitsuru
M
Sugai
Kenji
K
Ohtsuki
Taisuke
T
Suzuki
Chieko
C
Minami
Narihiro
N
Ozawa
Shogo
S
Sawada
Jun-ichi
J