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Pharmacogenetics. 1998 Dec;8(6):455-9.

Nomenclature for human DPYD alleles.

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  • 1Department of Medicine and Therapeutics, Institute of Medical Sciences, University of Aberdeen, UK.


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.

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