Daly A K, Brockmöller J, Broly F, Eichelbaum M, Evans W E, Gonzalez F J, Huang J D, Idle J R, Ingelman-Sundberg M, Ishizaki T, Jacqz-Aigrain E, Meyer U A, Nebert D W, Steen V M, Wolf C R, Zanger U M
Pharmacogenetics Research Unit, University of Newcastle upon Tyne, Medical School, UK.
Pharmacogenetics. 1996 Jun;6(3):193-201. doi: 10.1097/00008571-199606000-00001.
To standardize CYP2D6 allele nomenclature, and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that alleles be designated by CYP2D6 followed by an asterisk and a combination of roman letters and arabic numerals distinct for each allele with the number specifying the key mutation and, where appropriate, a letter specifying additional mutations. Criteria for classification as a separate allele and protein nomenclature are also presented.
为规范CYP2D6等位基因命名,并符合国际人类基因命名指南,本文描述了一种替代当前任意命名系统的方法。基于人类基因组命名的建议,我们提议等位基因由CYP2D6后跟一个星号以及一组罗马字母和阿拉伯数字组成,每个等位基因的组合都是独特的,其中数字指定关键突变,在适当情况下,字母指定额外突变。本文还介绍了作为单独等位基因分类的标准和蛋白质命名法。