Complex Diseases and Pharmacogenetics Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

What are the two different types of genetic diseases?

A

mendelian or complex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is a mendelian disease?

A

A condition with clear mendelian inheritance patterns, caused by a single gene with limited environmental influence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is a complex disease?

A

A disease controlled by multiple genes, and where the phenotype is controlled by the interaction of many genes and the environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is an SNP?

A

A single nucleotide polymorphism - DNA sequence variations that occur when a single nucleotide is changed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the most common type of variation in a genome?

A

SNPs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is meant by heritability?

A

It is an estimation of the genetic contribution to increased risk of disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the two ways to measure heritability?

A

Twin Studies and Genome Wide Association studies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are Genome Wide Association Studies?

A

Where you study the genomes of different people and look for an association between specific genetic variations and the different diseases that the people in the study have

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the downsides of GWAS?

A

You need a very large sample size

Mass testing is required which needs money and qualified people

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

When are SNP’s said to be associated with certain conditions?

A

When SNPs are found to be more frequent in people with a disease compared to people without the disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What specifically is GWAS lookin for?

A

Shared SNPs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is meant by missing heritability?

A

The gap between the association found by the GWAS and what is known about the heritability of the disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the 5 factors contributing to missing heritability?

A
  1. Rare SNPs
  2. Interactions are not taken into consideration
  3. Miscalculated estimation of heritability
  4. Diagnosis
  5. Low frequency variants with immediate effects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How do Twin studies work?

A

Since monozygotic twins share 100% of their genetic material, they can be analysed as any variation will be due to the environment, not genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is pharmacogenetics?

A

The study of differences in response to drugs due to genetic differences amongst people

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What can pharmacogenetics specifically help with?

A

The development of personalised medicine

17
Q

What is the ideal scenario for a drug to work under?

A

Increased efficancy with decreased side effects

18
Q

What are the four classes of drug responses?

A

No effect
Recovery
Side effects
Death

19
Q

What is the definition of personalised medicine?

A

Tailoring treatment to patients depending on specific characteristics of their disease

20
Q

What are the most prevalent drug-metabolising enzymes?

A

Cytochrome P450 enzymes including CYP2D6 and CYP2C19

21
Q

What is the best way to study Mendelian disease?

A

Family studies through pedigree charts

22
Q

Why might there be false positives when looking at over 10,000,000 SNPs?

A

Larger sample, more of a likelihood that diseases occur purely by chance

23
Q

Give some examples of the modifiable factors affecting CVD

A

Drinking habits

Eating habits

Smoking

High blood pressure

Sedentary lifestyle

24
Q

Give some examples of the non-modifiable factors affecting CVD

A

Age
Sex
genetics