Pharmacology 3620 Lecture Notes - Lecture 8: Pharmacogenetics, Human Genome Project, Tas2R38
Document Summary
It is called tas2r38: codes for a gpcr, the genetic polymorphism for non-tasters causes a change in the amino acid sequence. Variation in response to drugs: using a quantal dose response curve, can see the idea variation in response to drugs, as well as some other variable responses, there could be separate groups within a population. Genetics review: any region of the genome can be impacted by polymorphisms. Snps: difference of one base pair that occurs in the population at an allele frequency of 1% or greater, these are part of the natural genetic variation that creates diversity in a population. Individuals differ from each other every 300-1000 nucleotides: approximately 10 million snps in the human genome, coding snps snps that occur in the exons. If the bp substitution results in an amino acid change, it is classified as nonsynonymous (or missense) Insertions and deletions can range from 1 nucleotide to 1000s. Classical examples: succinylcholine metabolism by butyrylcholinesterase, debrisoquine metabolism.