Page 118 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg
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Chapter 4
Supplementary Table 4. Genotype to predicted phenotype translation to be programmed into laboratory information system
Genotype
DPYD: WILDTYPE/WILDTYPE
DPYD: WILDTYPE/*2A
DPYD: WILDTYPE/*13
DPYD: WILDTYPE/c.2846A>T
DPYD: WILDTYPE/c.1236G>A
DPYD: *2A/*2A
DPYD: *13/*13
DPYD: c.2846A>T/c.2846A>T
DPYD: c.1236G>A/c.1236G>A
DPYD: WILDTYPE/*2A WILDTYPE/*13
DPYD:
WILDTYPE/*2A WILDTYPE/c.1236G>A
rs number variants
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
DPYD_rs3918290 DPYD_rs55886062 DPYD_rs56038477 DPYD_rs67376798
Nucleotide at position
G:G T:T G:G A:A
G:A *2A T:T
G:G
A:A
G:G T:G *13 G:G A:A
G:G
T:T
G:G
A:T c.2846A>T
G:G
T:T
G:A c.1236G>A A:A
A:A *2A T:T
G:G
A:A
G:G G:G *13 G:G
A:A
G:G
T:T
G:G
T:T c.2846A>T
G:G
T:T
A:A c.1236G>A A:A
G:A*2A T:G *13 G:G A:A
G:A *2A
T:T
G:A c.1236G>A A:A
Dose recommendation according to gene activity score
GENE ACTIVITY SCORE 2
GENE ACTIVITY SCORE 1
GENE ACTIVITY SCORE 1
GENE ACTIVITY SCORE 1,5
GENE ACTIVITY SCORE 1,5
GENE ACTIVITY SCORE 0
GENE ACTIVITY SCORE 0
GENE ACTIVITY SCORE 1
GENE ACTIVITY SCORE 1
Unable to predict the gene activity score. Phenotyping should distinguish if both variants are present on separate alleles (GENE ACTIVITY SCORE 0) or on the same allele (GENE ACTIVITY SCORE 1).
Unable to predict the gene activity score. Phenotyping should distinguish if both variants are present on separate alleles (GENE ACTIVITY SCORE 0.5) or on the same allele (GENE ACTIVITY SCORE 1).
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