Novel single nucleotide polymorphism of UGT1A7 gene in Japanese.
We sequenced exon 1 of the UDP-glucuronosyltransferase (UGT) 1A7 gene from 52 Japanese cancer patients. Four single nucleotide polymorphisms (SNPs) were found. Three of them caused UGT1A7*2 and UGT1A7*3. A novel SNP (98973G>C) causing amino acid substitution (Ser141Cys) was found. The sequence is as follows: SNP, 050824FujitaK002; Gene Name, UGT1A7; Accession Number, AF297093; Length, 25 bases; 5'-TAAAGGAGAGTTG/CTTTTGATGCAGT-3'. One out of 52 cancer patients was heterozygous for the variant allele, resulting in the allele frequency of 0.96%. The patient did not possess UGT1A7*2 or UGT1A7*3.
Fujita
Ken-ichi
K
Department of Clinical Oncology, Saitama Medical School, Iruma-gun, Japan. fujitak@saitama-med.ac.jp
Ando
Yuichi
Y
Nagashima
Fumio
F
Yamamoto
Wataru
W
Endo
Hisashi
H
Kodama
Keiji
K
Araki
Kazuhiro
K
Miya
Toshimichi
T
Narabayashi
Masaru
M
Sasaki
Yasutsuna
Y
D000483:Alleles; D019943:Amino Acid Substitution; D000972:Antineoplastic Agents, Phytogenic / Q000493:pharmacokinetics / Q000627:therapeutic use; D019540:Area Under Curve; D002166:Camptothecin / Q000031:analogs & derivatives / Q000493:pharmacokinetics / Q000627:therapeutic use; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D000077146:Irinotecan; D007564:Japan / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000201:enzymology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D000972:Antineoplastic Agents, Phytogenic; D000077146:Irinotecan; D004247:DNA; D014453:Glucuronosyltransferase; C107611:UDP-glucuronosyltransferase, UGT1A7; D002166:Camptothecin