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

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Abstract

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. Pharmacogenetics 8:455-459. (C) 1998 Lippincott Williams & Wilkins.

Original languageEnglish
Pages (from-to)455-459
Number of pages5
JournalPharmacogenetics
Volume8
Publication statusPublished - 1998

Keywords

  • allele nomenclature
  • DPYD
  • dihydropyrimidine dehydrogenase
  • pyrimidine metabolism
  • DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY
  • 5-FLUOROURACIL TOXICITY
  • MONONUCLEAR-CELLS
  • CANCER-PATIENTS
  • MOLECULAR-BASIS
  • GENE
  • IDENTIFICATION
  • CHEMOTHERAPY
  • POPULATION
  • LIVER

Cite this

McLeod, H. L., Collie-Duguid, E. S. R., Vreken, P., Johnson, M. R., Wei, X., Sapone, A., Diasio, R. B., Fernandez-Salguero, P., van Kuilenberg, A. B. P., van Gennip, A. H., & Gonzalez, F. J. (1998). Nomenclature for human DPYD alleles. Pharmacogenetics, 8, 455-459.