Three novel single nucleotide polymorphisms in UGT1A9

Mayumi Saeki; Yoshiro Saito; Hideto Jinno; Kimie Sai; Kazuo Komamura; Kazuyuki Ueno; Shiro Kamakura; Masafumi Kitakaze; Kuniaki Shirao; Hironobu Minami; Atsushi Ohtsu; Teruhiko Yoshida; Nagahiro Saijo; Shogo Ozawa; Jun-ichi Sawada

doi:10.2133/dmpk.18.146

Three novel single nucleotide polymorphisms in UGT1A9

Drug Metab Pharmacokinet. 2003;18(2):146-9. doi: 10.2133/dmpk.18.146.

Authors

Mayumi Saeki¹, Yoshiro Saito, Hideto Jinno, Kimie Sai, Kazuo Komamura, Kazuyuki Ueno, Shiro Kamakura, Masafumi Kitakaze, Kuniaki Shirao, Hironobu Minami, Atsushi Ohtsu, Teruhiko Yoshida, Nagahiro Saijo, Shogo Ozawa, Jun-ichi Sawada

Affiliation

¹ Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.

PMID: 15618729
DOI: 10.2133/dmpk.18.146

Abstract

Three novel single nucleotide polymorphisms (SNPs) were found in the UDP-glucuronosyltransferase (UGT) 1A9 gene from 97 Japanese subjects (47 cancer patients and 50 cardiovascular disease patients). The detected SNPs were as follows: 1) SNP, MPJ6_U1A006; GENE NAME, UGT1A9; ACCESSION NUMBER, AF297093; LENGTH, 25 bases; 5'-AATTCTCTTAGGG/TTTCTCAGATGCC-3'. 2) SNP, MPJ6_U1A007; GENE NAME, UGT1A9; ACCESSION NUMBER, AF297093; LENGTH, 25 bases; 5'-TGTTACGGAGTAT/GGATCTCTACAGC-3'. 3) SNP, MPJ6_U1A031; GENE NAME, UGT1A9; ACCESSION NUMBER, AF297093; LENGTH, 25 bases; 5'-ACTCATTCTCAGG/AGGGCATGAGGTG-3'. All three SNPs were located in exon 1 with frequencies of 0.036 for MPJ6_U1A006, and 0.005 for MPJ6_U1A007 and MPJ6_U1A031. SNP MPJ6_U1A007 (726T>G) results in formation of a termination codon TAG (Y242X). The other two SNPs, MPJ6_U1A006 (588G>T) and MPJ6_U1A031 (153G>A), result in synonymous changes (G196G and R51R, respectively).