Kumagai K, Hiyama K, Ishioka S, Sato H, Yamanishi Y, McLeod H L, Konishi F, Maeda H, Yamakido M
Second Department of Internal Medicine, Hiroshima University School of Medicine, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
Pharmacogenetics. 2001 Apr;11(3):275-8. doi: 10.1097/00008571-200104000-00012.
Polymorphisms at three loci in the thiopurine methyltransferase (TPMT) gene are known to be responsible for azathioprine and 6-mercaptopurine (6MP) toxicity. Among them, only TPMT*3C variant allele with A719G mutation was found in 15/522 (2.9%; 17/1044 alleles; 1.6%) Japanese individuals including two homozygotes. The allele frequency was different from that in Caucasians, and investigation of TPMT polymorphisms with consideration of ethnic differences before administration of azathioprine or 6MP may provide clinically useful information.
已知硫嘌呤甲基转移酶（TPMT）基因三个位点的多态性与硫唑嘌呤和6-巯基嘌呤（6MP）的毒性有关。其中，在522名日本个体中有15名（2.9%；1044个等位基因中有17个，占1.6%）检测到带有A719G突变的TPMT*3C变异等位基因，其中包括两名纯合子。该等位基因频率与白种人不同，在使用硫唑嘌呤或6MP之前考虑种族差异对TPMT多态性进行研究可能会提供临床有用信息。
