Table 2.
Allele frequencies of polymorphisms in the DPYD gene found in patients
| Polymorphisms in the DPYD gene | Effect (nucleotide change) | Wild type (n) | Heterozygous mutant (n) | Homozygous mutant (n) | Allelic frequency (%) | |
|---|---|---|---|---|---|---|
| aDPYD nomenclature | Exon | |||||
| DPYD*9A | 2 | Cys29Arg (85T>C) | 20 | 8 | 2 | 12/60 (20%) |
| – | 6 | Met166Val (496A>G) | 22 | 8 | 0 | 8/60 (13.33%) |
| – | 11 | Glu412Glu (1236G>A) | 29 | 1 | 0 | 1/60 (1.67%) |
| DPYD*4 | 13 | Ser534Asn (1601G>A) | 29 | 1 | 0 | 1/60 (1.67%) |
| DPYD*5 | 13 | Ile543Val (1627A>G) | 19 | 9 | 2 | 13/60 (21.67%) |
| DPYD*6 | 18 | Val732Ile (2194G>A) | 28 | 2 | 0 | 2/60 (3.33%) |
DPYD dihydropyrimidine dehydrogenase gene
aSource of nomenclature: Mcleod et al. [44]