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5 Cards in this Set
- Front
- Back
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Why test UGT1A?
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enzyme involved in glucuronidation of irinotecan. defects result in increased toxicity- leukopenia and diarrhea
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what are the allelic variants of UGT1A and what are their effects on drug metabolism?
1. 2. 3. |
UGT1A- TA repeats in the promoter region
1. 6 repeats- WT (*1) 2. 5- normal activity (*36) 3. TA 7 (*28) or 8 (*37)-50% activity- having 7/7 or 7/8 means poor metabolizer and should get a lower dose |
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Patients with a 7/7 or 7/8 UGT1A phenotype also have what disease?
What if there is a lack of UGT1A expression? |
UGT1A- 7/7-
Gilbert syndrome- actually 3-10% of the population (elevated bilirubin) If lack of expression, Crigler-Najjar syndrome. |
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Warfarin sensitivity- what gene is tested?
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CYP2C9- *2 allele associated with lower maintenance dose (30% less enzymatic activity)
*3 allele (70% less, but rarer) *1 is WT. *1/*3 het has slow metabolism, 1/2 is normal 2/2 is slow. 3/3 is really slow |
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What gene associated with Warfarin resistance?
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VKORC1. Variants in promoter. Some variants associated with resistance, others sensitivity.
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