Genomic structure and multiple single-nucleotide polymorphisms (SNPs) of the thiopurine S-methyltransferase (TPMT) gene

被引：37

作者：

Seki, T ^{[1
]}

Tanaka, T ^{[1
]}

Nakamura, Y ^{[1
]}

机构：

[1] Univ Tokyo, Ctr Human Genome, Mol Med Lab, Minato Ku, Tokyo 1088639, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 05期

关键词：

single nucleotide polymorphism (SNP); thiopurine S-methyltransferase (TPMT); side effect; genomic structure; drug metabolism;

D O I：

10.1007/s100380070020

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：299 / 302

页数：4

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