五新单核苷酸多态性EPHX1环氧化物水解酶基因编码微粒体。
文章的细节
-
引用
复制到剪贴板 -
Shiseki K, Itoda M,齐藤Y, Y,只是Maekawa K,木村H,转到Y, Saitoh O, Katoh M, Ohnuma T,卡瓦依米,Sugai K, Ohtsuki T,铃木C, N,南小泽年代,泽田师傅J
五新单核苷酸多态性EPHX1环氧化物水解酶基因编码微粒体。
药物金属底座Pharmacokinet。2003; 18 (2): 150 - 3。
- PubMed ID
-
15618730 (在PubMed]
- 文摘
-
五个新颖的单核苷酸多态性(snp)在EPHX1基因被发现从96年日本癫痫患者。单核苷酸多态性检测如下:1)SNP, MPJ6_EX1009;基因名字,EPHX1加入数字,NT_004525.12;长度,25基地;5‘-CCTCACTTCAGTG / ACTGGGCTTTGCC-3’。2)单核苷酸多态性,MPJ6_EX1013;基因名称、EPHX1;加入数量,NT_004525.12;长度,25基地;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).