Seki T, Tanaka T, Nakamura Y
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
J Hum Genet. 2000;45(5):299-302. doi: 10.1007/s100380070020.
Thiopurine S-methyltransferase (TPMT) catalyzes the S-methylation of drugs such as azathiopurine, 6-mercaptopurine, and 6-thioguanine, which are widely prescribed for immunosuppressive or cytotoxic applications. We report here the entire genomic structure of the TPMT gene and the presence of 30 single-nucleotide polymorphisms (SNPs) within that structure. The gene spans a genomic region about 27kb long and consists of nine exons. By screening its entire genomic sequence for SNPs in 48 Japanese chromosomes by direct DNA sequencing, we detected 1 SNP in the 870-bp promoter region, 26 SNPs in introns, and 3 SNPs in the 3' untranslated region (3'UTR) for investigating correlations between TPMT genotypes and the side-effects caused by thiopurine drugs.
硫嘌呤S-甲基转移酶（TPMT）催化硫唑嘌呤、6-巯基嘌呤和6-硫鸟嘌呤等药物的S-甲基化反应，这些药物广泛用于免疫抑制或细胞毒性治疗。我们在此报告TPMT基因的完整基因组结构以及该结构内存在的30个单核苷酸多态性（SNP）。该基因跨越约27kb长的基因组区域，由九个外显子组成。通过直接DNA测序在48条日本染色体中筛选其整个基因组序列中的SNP，我们在870bp的启动子区域检测到1个SNP，在内含子中检测到26个SNP，在3'非翻译区（3'UTR）检测到3个SNP，以研究TPMT基因型与硫嘌呤类药物引起的副作用之间的相关性。
