Itoda Masaya, Saito Yoshiro, Maekawa Keiko, Hichiya Hiroyuki, Komamura Kazuo, Kamakura Shiro, Kitakaze Masafumi, Tomoike Hitonobu, Ueno Kazuyuki, Ozawa Shogo, Sawada Jun-ichi
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Drug Metab Pharmacokinet. 2004 Aug;19(4):308-12. doi: 10.2133/dmpk.19.308.
Twenty genetic variations, including seven novel ones, were found in the human SLC22A1 gene, which encodes organic cation transporter 1, from 116 Japanese individuals. The novel variations were as follows: -94C>A in the 5'-untranslated region (A of the translation start codon is numbered +1 in the cDNA sequence; MPJ6_OC1001), 350C>T (MPJ6_OC1004), IVS1-35T>C (MPJ6_OC1006), 561G>A (MPJ6_OC1010), IVS6+75C>G (MPJ6_OC1014), IVS8+108A>G (MPJ6_OC1017), and 1671_1673delATG (MPJ6_OC1020). The frequencies were 0.082 for IVS1-35T>C, 0.022 for IVS6+75C>G, 0.009 for 561G>A, and 0.004 for the other 4 variations. Among them, 350C>T resulted in the amino acid substitution Pro117Leu, which is located in the large extracellular loop between transmembrane domains 1 and 2. Also, we detected the four previously reported nonsynonymous variations, 123C>G (Phe41Leu), 480C>G (Phe160Leu), 1022C>T (Pro341Leu), and 1222A>G (Met408Val) with frequencies of 0.004, 0.086, 0.168, and 0.810, respectively.
在编码有机阳离子转运体1的人类SLC22A1基因中，从116名日本个体中发现了20种基因变异，其中包括7种新的变异。新变异如下：5'-非翻译区的-94C>A（翻译起始密码子的A在cDNA序列中编号为+1；MPJ6_OC1001）、350C>T（MPJ6_OC1004）、IVS1-35T>C（MPJ6_OC1006）、561G>A（MPJ6_OC1010）、IVS6+75C>G（MPJ6_OC1014）、IVS8+108A>G（MPJ6_OC1017）以及1671_1673delATG（MPJ6_OC1020）。IVS1-35T>C的频率为0.082，IVS6+75C>G的频率为0.022，561G>A的频率为0.009，其他4种变异的频率为0.004。其中，350C>T导致氨基酸替换为Pro117Leu，该位置位于跨膜结构域1和2之间的大细胞外环中。此外，我们还检测到4种先前报道的非同义变异，分别为123C>G（Phe41Leu）、480C>G（Phe160Leu）、1022C>T（Pro341Leu）和1222A>G（Met408Val），其频率分别为0.004、0.086、0.168和0.810。
