Abstract
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%.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Antineoplastic Agents, Phytogenic / pharmacokinetics
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Antineoplastic Agents, Phytogenic / therapeutic use
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Camptothecin / analogs & derivatives
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Camptothecin / pharmacokinetics
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Camptothecin / therapeutic use
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DNA, Neoplasm / genetics
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Exons / genetics
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Gene Frequency
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Glucuronosyltransferase / genetics*
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Humans
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Introns / genetics
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Irinotecan
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Japan / epidemiology
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Molecular Sequence Data
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Mutation / genetics
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Neoplasms / genetics
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Polymorphism, Single Nucleotide / genetics
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Reverse Transcriptase Polymerase Chain Reaction
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UDP-Glucuronosyltransferase 1A9
Substances
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Antineoplastic Agents, Phytogenic
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DNA, Neoplasm
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UGT1A9 protein, human
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Irinotecan
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Glucuronosyltransferase
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UDP-Glucuronosyltransferase 1A9
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Camptothecin