人类编码有机阳离子转运体1（OCT1）的SLC22A1基因中的七个新型单核苷酸多态性。

Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1).

作者信息

Itoda Masaya, Saito Yoshiro, Maekawa Keiko, Hichiya Hiroyuki, Komamura Kazuo, Kamakura Shiro, Kitakaze Masafumi, Tomoike Hitonobu, Ueno Kazuyuki, Ozawa Shogo, Sawada Jun-ichi

机构信息

Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.

出版信息

Drug Metab Pharmacokinet. 2004 Aug;19(4):308-12. doi: 10.2133/dmpk.19.308.

DOI:10.2133/dmpk.19.308

PMID:15499200

Abstract

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.

摘要

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。