Fukushima-Uesaka Hiromi, Maekawa Keiko, Ozawa Shogo, Komamura Kazuo, Ueno Kazuyuki, Shibakawa Masahiko, Kamakura Shiro, Kitakaze Masafumi, Tomoike Hitonobu, Saito Yoshiro, Sawada Jun-ichi
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Drug Metab Pharmacokinet. 2004 Jun;19(3):239-44. doi: 10.2133/dmpk.19.239.
Thirty-three genetic variations including fourteen novel ones were found in the SLC22A2 gene from 116 Japanese individuals. The novel variations were as follows: 596C>T (MPJ6_OC2003), 602C>T (MPJ6_OC2004), IVS5+20A>G (MPJ6_OC2010), IVS5-84_-83insG (MPJ6_OC2013), IVS6+30T>C (MPJ6_OC2014), IVS6+146G>T (MPJ6_OC2016), IVS6+179G>T (MPJ6_OC2017), IVS6-16delT (MPJ6_OC2018), 1920G>A (MPJ6_OC2022), 2153G>A (MPJ6_OC2026), 2157C>T (MPJ6_OC2028), 2306T>C (MPJ6_OC2031), 2342+5T>C (the last nucleotide number of mRNA+the position in the 3'-flanking region; MPJ6_OC2032) and 2342+127T>C (MPJ6_OC2033). Six variations were located in the exons, four of which were in the 3'-untranslated region (3'-UTR) of exon 11; six were in the introns; and two were in the 3'-flanking region. The frequencies were 0.802 for IVS5-84_-83insG, 0.013 for 602C>T, 0.009 for 596C>T, and 0.004 for the other 11 variations. Among them, 596C>T and 602C>T resulted in amino acid substitutions (Thr199Ile and Thr201Met, respectively).
在116名日本个体的SLC22A2基因中发现了33个基因变异，其中包括14个新的变异。新变异如下：596C>T（MPJ6_OC2003）、602C>T（MPJ6_OC2004）、IVS5+20A>G（MPJ6_OC2010）、IVS5-84_-83insG（MPJ6_OC2013）、IVS6+30T>C（MPJ6_OC2014）、IVS6+146G>T（MPJ6_OC2016）、IVS6+179G>T（MPJ6_OC2017）、IVS6-16delT（MPJ6_OC2018）、1920G>A（MPJ6_OC2022）、2153G>A（MPJ6_OC2026）、2157C>T（MPJ6_OC2028）、2306T>C（MPJ6_OC2031）、2342+5T>C（mRNA的最后一个核苷酸编号+3'侧翼区域中的位置；MPJ6_OC2032）和2342+127T>C（MPJ6_OC2033）。6个变异位于外显子中，其中4个在外显子11的3'非翻译区（3'-UTR）；6个在内含子中；2个在3'侧翼区域。IVS5-84_-83insG的频率为0.802，602C>T的频率为0.013，596C>T的频率为0.009以及其他11个变异的频率为0.004。其中，596C>T和602C>T导致了氨基酸替换（分别为Thr-199Ile和Thr-201Met）。
