Detection Assay of Rare Variants of the Thiopurine Methyltransferase Gene by PCR-RFLP Using a Mismatch Primer in a Japanese Population

概要

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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.
公益社団法人日本薬学会の論文
2000-09-01