L39 Pharmacogenomics Flashcards
What is deorphanisation?
Receptors have ligands, and if the ligand for a receptor is unknown that receptor is labelled as an ‘orphan’.
Deorphanisation is discovering ligands to match specific receptors.
Why is precision medicine important?
Each individual responds differently to drugs. The right dose for one person can be too strong or too weak for another.
Need to maximise efficacy while minimising adverse reactions.
The cost of adverse drug reactions to the NHS is an estimated £500million per year, and they result in over 100,000 deaths each year in the USA.
What term is being described:
‘Combination of SNPs present at different genetic locations that are transmitted together on the same chromatid (=replicating chromosome)’
Haplotype
What term is being described:
‘DNA sequence variation when a single base differs at the same genetic location between different chromosomes
(either within an individual or between individuals of the same species).
Represents the most common type of genetic variation’
SNP
Single nucleotide polymorphism
What term is being described:
‘Combination of alleles for a given gene within an individual.
An individual’s __?__ is defined by the 2 alleles present [chromosomes are paired]’
Genotype
What term is being described:
‘Mutation that ultimately results in a change in protein sequence’
Nonsynonymous mutation
True or false: The human genome is ~99.9% identical in all people
True.
True or false: If a mutation in the genome has no effect, it is termed ‘silent variation’.
True.
Is haemophilia an example of a simple genetic disease or complex genetic disease?
Simple
Variation in one gene (Factor VIII) causes disease
Is diabetes an example of a simple or complex genetic disease?
Complex
Symptoms only seen after many variations have occurred in different genes.
What are latent variations?
Variations which are harmless on their own, but in combination with other factors (usually environmental) they can be harmful.
Accounts for why some people have worse reactions to smoking, alcohol, and various drugs.
The ApoE gene is associated with late onset Alzheimer’s Disease.
Inheriting the E4 allele has what effect on the risk of developing Alzheimer’s?
Increases the risk
The ApoE gene is associated with late onset Alzheimer’s Disease.
Inheriting the E2 allele has what effect on the risk of developing Alzheimer’s?
Decreases the risk
Where are plasma proteins made?
Liver
What is the role of thrombin in coagulation?
Converts fibrinogen into fibrin to give strength to the clot.
