BIO200H5 Lecture Notes - Lecture 19: Copy-Number Variation, Cyp2D6, Cough Reflex

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28 Nov 2016
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Copy number variations, alpha amylase 1 gene (adaptive) and maladaptive cnvs (huntington"s disease). Snps and cnvs contribute to variation in phase i and ii metabolism. This contributes to most variability in of drug metabolism: ultra-rapid metabolizers: you have a higher copy number variation. When looking at auc, it"s very small for amount of drug absorbed. This is because there"s a significant amount of phase i metabolism occurring. Their doses therefore need to be much higher: extensive metabolizers: inherit 2 normal copies of the alleles. Intermediate metabolizers: can either behave more like extensive metabolizers or sometime like poor metabolizers (this always depends though). Intermediate metabolizers: they have a heterozygous genotype, and a higher auc: poor metabolizers: they often face accumulation, which can lead to adverse effects and toxicity. Higher probability of drug:drug interactions, because they hold drugs in the blood plasma for a long time (the pervious drug may not have cleared the body sufficiently).