Nomenclature for human DPYD alleles

H. L. McLeod, E. S.R. Collie-Duguid, P. Vreken, M. R. Johnson, X. Wei, A. Sapone, R. B. Diasio, P. Fernandez-Salguero, A. B.P. Van Kuilenberg, A. H. Van Gennip, F. J. Gonzalez

Research output: Contribution to journalArticlepeer-review

91 Scopus citations


To standardize DPYD 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 each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.

Original languageEnglish (US)
Pages (from-to)455-459
Number of pages5
Issue number6
StatePublished - 1998


  • Allele nomenclature
  • DPYD
  • Dihydropyrimidine dehydrogenase
  • Pyrimidine metabolism

ASJC Scopus subject areas

  • Genetics
  • Pharmacology, Toxicology and Pharmaceutics(all)


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