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POM 4 G :GENETICS > 1.4 Complex Disease And Pharmacogenetics > Flashcards

1.4 Complex Disease And Pharmacogenetics Flashcards

1
Q

Mendelian trait

A

Controlled by a single gene, follows mendels principle

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2
Q

Complex trait

A

Controlled by multiple genes and the effect of the environment

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3
Q

Causes of phenotypic differences

A

Genetic differences

Shared environment

Unique environment

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4
Q

Monozygotic

A

Identical

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5
Q

Dizygotic

A

Not identical

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6
Q

Concordance

A

Whether trait is shared

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7
Q

SNP

A

Single nucleotide polymorphism
Change in a single nucleotide in genetic sequence

Most common mutation in genome

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8
Q

Association studies ae driven by

A

Hypothesis

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9
Q

Association studies with snp

A

Limit analysis to a few number of pre specified genes

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10
Q

Bad thing about association studies

A

Biased toward genes and known biological pathways

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11
Q

GWAS

A

Genome wide association studies

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12
Q

Genome wide association studies

A

Examine association snps an disease across entire genome

Hypothesis free

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13
Q

Benefits of gwas

A

Identifies snp variant association
Identify at risk individuals
Discovers novel biological mechanisms
Inform drug discovery
Identify ethnic differences

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14
Q

Limitations of gwas

A

Doesn’t identify causal variants - further testing required

Doesn’t identify heeetwbility

Doesn’t identify rare variants due to threshold

Doesn’t account for epigenetics

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15
Q

WGS

A

Whole genome sequencing

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16
Q

Whole genome sequencing

A

Identifies every snp

Clear identification of disease and disease risk

17
Q

Which technique did the 100k genome project use

A

Whole genome sequencing

18
Q

Limitations of wgs

A

What to do with all the data

Roles of many genes undeteemined

19
Q

Pharmacogenomics

A

Study of variability in drug response due to genetic differences

20
Q

Pharmacokinetics

A

What the body does to a drug

21
Q

Pharmacokinetic pathway

A

Absorption - [activation] - target - effect - inactivation - excretion

22
Q

What can effect all pharmacokinetics processes

A

SNPs

23
Q

Where are majority of drugs absorbed

A

Small intestine by specific transporter proteins

24
Q

P-gp transporter

A

Removes drugs from blood to intestines for absorption

25
Q

An snp in p-gp causing a decrease in duodenal p-gp levels

A

More drugs in blood stream

26
Q

Alcohol metabolism

A

Ethanol - acetaldehyde (toxic) - acetate (non-toxic)

27
Q

SNP in alcohol dehydrogenase to decrease activity step 1

A

Don’t metabolise alcohol so remains in blood and effects last longer

28
Q

Snp in aldehyde dehydrogenase decreasing activity step 2

A

Acetaldehyde toxic build up giving bad reaction to alcohol

29
Q

Drugs requiring activation also called

A

Prodrugs

POM 4 G :GENETICS (8 decks)

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