Novel Single Nucleotide Polymorphism of UGT1A9 Gene in Japanese

抄録

  We sequenced from 5′-franking region to intron 1 (to 337 bp downstream from exon 1) of the UDP-glucuronosyltransferase (UGT) 1A9 gene prepared from 55 Japanese cancer patients. Seven single nucleotide polymorphisms (SNPs) were found. Two of them were UGT1A9 -118(T)_n (n=10) and UGT1A9^*5, and four were reported SNPs in intron 1 of UGT1A9 gene (89540C>T, 89549G>A, 89616T>A and 89710A>C). A novel SNP (89587T>C) was found. The sequence is as follows: SNP, 050824FujitaK001; GENE NAME, UGT1A9; ACCESSION NUMBER, AF297093; LENGTH, 25 bases; 5′-CCTTCTTGAAGAT/CATGTATTTATAA-3′. Two patients were heterozygous for the mutant allele, resulting in the allele frequency of 1.82%.