Novel single nucleotide polymorphism of UGT1A9 gene in Japanese.
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%.
Department of Clinical Oncology, Saitama Medical School, Iruma-gun, Japan. fujitak@saitama-med.ac.jp
Ken-ichi
K
Fujita
Yuichi
Y
Ando
Fumio
F
Nagashima
Wataru
W
Yamamoto
Hisashi
H
Endo
Keiji
K
Kodama
Kazuhiro
K
Araki
Toshimichi
T
Miya
Masaru
M
Narabayashi
Yasutsuna
Y
Sasaki
D000483:Alleles; D000972:Antineoplastic Agents, Phytogenic / Q000493:pharmacokinetics / Q000627:therapeutic use; D002166:Camptothecin / Q000031:analogs & derivatives / Q000493:pharmacokinetics / Q000627:therapeutic use; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D000077146:Irinotecan; D007564:Japan / Q000453:epidemiology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000090264:UDP-Glucuronosyltransferase 1A9
D000972:Antineoplastic Agents, Phytogenic; D004273:DNA, Neoplasm; C000715591:UGT1A9 protein, human; D000077146:Irinotecan; D014453:Glucuronosyltransferase; D000090264:UDP-Glucuronosyltransferase 1A9; D002166:Camptothecin