文章基本信息

标题：Detection Assay of Rare Variants of the Thiopurine Methyltransferase Gene by PCR-RFLP Using a Mismatch Primer in a Japanese Population
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作者：Masahiro HIRATSUKA ; Tomoko INOUE ; Fumiko OMORI 等
期刊名称：Biological and Pharmaceutical Bulletin
印刷版ISSN：0918-6158
电子版ISSN：1347-5215
出版年度：2000
卷号：23
期号：9
页码：1090-1093
DOI：10.1248/bpb.23.1090
出版社：The Pharmaceutical Society of Japan
摘要：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.
关键词：thiopurine methyltransferase;genetic analysis;polymorphism