Pharmacogenomic terminology

2. A study to assess common genetic variations across the entire genome of a large population of individuals in order to study whether any of the investigated variations is associated with a phenotype of interest
5. An unintended, harmful reaction to medicines
7. An individual’s collection of genes
10. A collection of genetic variants, such as SNPs, that always travel together (are inherited together) on the same individual allele
12. Part of the genome formed by DNA sequences that encode genes
13. The biochemical and physiological effects of drugs, particularly those that define the drugs mechanism of action on the body
15. P450 A group of enzymes involved in drug metabolism and found in high levels in the liver
17. A variant that has two or more alleles and is present at a frequency of at least 1% of the population

1. Well know anticoagulant that causes severe side affects in certain individuals
3. The basic physical unit of inheritance
4. HIV drug for which all patients undergo a genetic test prior to administration
6. When two different alleles are present on the chromosome pair
8. metaboliser Two normally functioning alleles and therefore have normal enzyme activity
9. gene A gene predicted to be associated with a particular trait e.g disease, adverse reaction to a drug
11. A single nucleotide locus with two or more naturally occurring alleles defined by a single base pair substitution
14. A precursor (forerunner) of a drug needs to undergo chemical conversion by metabolic processes before becoming an active pharmacological agent
16. metaboliser Two non-functional alleles and therefore have little to no enzyme activity