A nomenclature system for metabolic gene polymorphisms.
A nomenclature system for all human metabolic gene polymorphisms is suggested. This system should replace the various nomenclatures used in the literature to describe polymorphisms in many of the cytochrome P450 (CYP) genes, as well as the glutathione S-transferase (GST) and N-acetyltransferase (NAT) genes. The system is based on two published papers proposing nomenclatures for the various alleles of CYP2D6 and NAT. The gene name is followed by an asterisk, followed by an arabic number designating the specific polymorphism in chronological order of first publication. The final number may be followed by letters A,B, etc. when allelic subtypes exist. A table is presented showing nomenclature for 72 polymorphisms in 12 genes, including detailed descriptions and commonly used previous designations.
Garte
S
S
Environmental and Occupational Health Sciences Institute, UMDNJ, Piscataway, NJ, USA.
Crosti
F
F
D000483:Alleles; D001191:Arylamine N-Acetyltransferase / Q000235:genetics / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics / Q000378:metabolism; D005982:Glutathione Transferase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D009626:Terminology as Topic
D003577:Cytochrome P-450 Enzyme System; D001191:Arylamine N-Acetyltransferase; D005982:Glutathione Transferase