Pharmacogenomics Primer Unit

central dogma definition

framework for how genetic info flows from DNA to protein product (DNA → RNA → Protein)

Genetics vs genomics

genetics focuses on specific gene while genomics addresses all genes and their interrelationship

promoter

sequence of DNA that turns genes on/off

exon

portion of genetic code that encodes for AAs

intron

portion of genetic code that does NOT encode for AAs

point mutation

change in single genetic base pair

transition point mutation

change from pyrimidine (T,C) to another pyrimidine

transversion point mutation

change from pyrimidine (T,C) to a purine (A,G) or vice versa

single nucleotide polymorphisms (SNPs)

change of single nucleotide basepairs at DNA level, most common type of genetic variation

silent (synonymous) mutations

base substitutions that don’t alter the AA sequence it codes for

missense (non-synonymous) mutations

base substitutions where AA change does occur

nonsense mutation

base substitution that changes normal codon to stop codon

frameshift mutation

addition or deletion of 1 or 2 nucleotides in sequence that leads to different AA sequence downstream

pharmacogenomics definition

The study of inherited differences in the disposition and effects of drugs and other foreign compounds; studies how genes affect someone’s response to drugs