Detection assay of rare variants of the thiopurine methyltransferase gene by PCR-RFLP using a mismatch primer in a Japanese population

M. Hiratsuka, T. Inoue, F. Omori, Y. Agatsuma, Y. Kishikawa, M. Mizugaki

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

Thiopurine methyltransferase (TPMT) catalyzes the metabolism of important drugs such as 6-mercaptopurine, 6-thioguanine, and azathioprine. The identification and frequency distributions of several variant TPMT alleles (TPMT*2-*8) have been described recently in many ethnic groups. We have recently demonstrated that TPMT*3C is the most common allele in Japanese subjects; however, it remains to be elucidated whether TPMT*4-*8 variants also exist in Japanese subjects. To detect polymorphisms in the TPMT gene (TPMT*4-*8), we have developed a mismatch polymerase chain reaction and restriction fragment length polymorphism method and conducted a population study of Japanese subjects. Genotyping of these variant forms was carried out in 192 Japanese healthy volunteers. The TPMT*4, TPMT*5, TPMT*6, TPMT*7, and TPMT*8 variants were not detected in any of the samples analyzed. This study provides the first analysis of the TPMT*4-*8 variants in a sample of the Japanese population and indicates that TPMT*4-*8 variants do not occur or are rare alleles in this population.

Original languageEnglish
Pages (from-to)1090-1093
Number of pages4
JournalBiological and Pharmaceutical Bulletin
Volume23
Issue number9
DOIs
Publication statusPublished - 2000

Keywords

  • Genetic analysis
  • Polymorphism
  • Thiopurine methyltransferase

ASJC Scopus subject areas

  • Pharmacology
  • Pharmaceutical Science

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