Shishikura K, Hohjoh H, Tokunaga K
Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Hum Mutat. 2000 Jun;15(6):581. doi: 10.1002/1098-1004(200006)15:6<581::AID-HUMU17>3.0.CO;2-V.
N-acetyltransferase (NAT2) is an enzyme involved in detoxification of various carcinogens. The gene is highly polymorphic with a number of alleles, and is also known as acetylator phenotypes: the fast, intermediate and slow acetylators. In this report, we describe a novel NAT2 allele, which was found in the allele typing with 109 Japanese individuals using conventional restriction fragment length polymorphism (RFLP) method. The sequence analyses of the entire amino acid coding region of the novel allele showed that it possessed a 190C>T variation leading to an amino acid substitution from arginine to tryptophan at position 64 (R64W). Consequently, the novel allele we found has been given the name of NAT2*19 by the arylamine N-acetyltransferase nomenclature committee.
N-乙酰基转移酶（NAT2）是一种参与多种致癌物解毒的酶。该基因具有高度多态性，有多个等位基因，也被称为乙酰化表型：快乙酰化者、中间乙酰化者和慢乙酰化者。在本报告中，我们描述了一个新的NAT2等位基因，它是在用传统限制性片段长度多态性（RFLP）方法对109名日本个体进行等位基因分型时发现的。对该新等位基因整个氨基酸编码区的序列分析表明，它存在190C>T变异，导致第64位氨基酸由精氨酸替换为色氨酸（R64W）。因此，我们发现的这个新等位基因已被芳胺N-乙酰基转移酶命名委员会命名为NAT2*19。
