Three Novel Single Nucleotide Polymorphisms of the Human Thiopurine S-Methyltransferase Gene in Japanese Individuals

In this study, the entire coding sequence and the exon-intron junctions of the thiopurine S-methyltransferase (TPMT) gene from 200 Japanese individuals were screened for mutation. Three novel single nucleotide polymorphisms (SNPs) were identified-106G>A in exon 3 (Gly36Ser, *20 allele), 967A>G...

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Published in:Drug metabolism and pharmacokinetics 2006-01, Vol.21 (4), p.332-336
Main Authors: Sasaki, Takamitsu, Goto, Emi, Konno, Yumiko, Hiratsuka, Masahiro, Mizugaki, Michinao
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
Base Sequence
Chromatography, High Pressure Liquid
DNA - genetics
Exons - genetics
genetic polymorphism
Humans
Japan
Japanese
Methyltransferases - genetics
Molecular Sequence Data
Nucleic Acid Denaturation
Polymorphism, Single Nucleotide - genetics
thiopurine S-methyltransferase
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Summary:In this study, the entire coding sequence and the exon-intron junctions of the thiopurine S-methyltransferase (TPMT) gene from 200 Japanese individuals were screened for mutation. Three novel single nucleotide polymorphisms (SNPs) were identified-106G>A in exon 3 (Gly36Ser, *20 allele), 967A>G in 3'-untranslated region, and -87C>T in intron 8. The allele frequencies were 0.003 for 106G>A, 0.003 for 967A>G, and 0.010 for IVS8 -87C>T. In addition, the three known SNPs, 474T>C (Ile158Ile), 719A>G (Tyr240Cys, *3C allele), and IVS4+35C>T were detected at frequencies of 0.299, 0.010, and 0.421, respectively.
ISSN:1347-4367
1880-0920
DOI:10.2133/dmpk.21.332