Page 124 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg
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Chapter 4
DPYD:
wildtype/*2A *13/*13 c.2846A>T/c.2846A>T
DPYD: wildtype/*2A *13/*13 wildtype/c.2846A>T
DPYD:
wildtype/*2A wildtype/*13 c.1236G>A/c.1236G>A
DPYD:
wildtype/*2A wildtype/*13 wildtype/c.1236G>A
DPYD:
wildtype/*2A wildtype/*13 c.2846A>T/c.2846A>T
DPYD: wildtype/*2A wildtype/*13 wildtype/c.2846A>T
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
G:A *2A
G:G *13
G:G
T:T c.2846A>T
G:A *2A
G:G *13
G:G
A:T c.2846A>T
G:A *2A
T:G *13
A:A c.1236G>A A:A
G:A *2A
T:G *13
G:A c.1236G>A A:A
G:A *2A
T:G *13
G:G
T:T c.2846A>T
G:A *2A
T:G *13
G:G
A:T c.2846A>T
GENE ACTIVITY SCORE 0
GENE ACTIVITY SCORE 0
Unable to predict the gene activity score. Phenotyping should distinguish if *2A and *13 are present on separate alleles (GENE ACTIVITY SCORE 0) or on the same allele (GENE ACTIVITY SCORE 0.5).
Unable to predict the gene activity score (GENE ACTIVITY SCORE 0 to 1). Phenotyping should distinguish which variants are present on the same allele.
Unable to predict the gene activity score. Phenotyping should distinguish if *2A and *13 are present on separate alleles (GENE ACTIVITY SCORE 0) or on the same allele (GENE ACTIVITY SCORE 0.5).
Unable to predict the gene activity score (GENE ACTIVITY SCORE 0 to 1). Phenotyping should distinguish which variants are present on the same allele.
#NOTE: In patients with two different gene
of the variants on the alleles. The variants
affected allele with reduced or absent DPD activity and one fully functional allele) or located on different alleles (resulting in two affected alleles).
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variants, the gene activity score is dependent on location can either be located on the same allele (resulting in one
