Bioinformatics

Question 1

DNA bioinformatics

Answer 1

Use of computational tools to analyse large amounts of data, such as DNA and amino acid sequences
-There are billions of base pairs and so we need computer to help analyse these bases and compare to other populations

Question 2

How is data generated

Answer 2

DNA sequencing such as Sanger and NGS

Question 3

Genetic variation

Answer 3

-Explains differences in phenotype from a genetic perspective
-It accounts for some of the differences amongst us. As such our genotype affects our phenotype. eg height and eye colour

Question 4

How do changes to DNA occur

Answer 4

-SNPs, INDELS (Insertion/deletion)
-Rearranges-large often chromosomal level changes
-Most changes occur in non-coding sequences (introns and intergenic)
-To identify where these are in the genome, DNA changes are given ID numbers that start with rs
-Some changes can affect our health such as disease susceptibility and response to medication

Question 5

Pharmacogenetics

Answer 5

The relationship between genetic variation and response to medicine
-It is how a specific gene responds to a drug

Question 6

Pharmacokinetics

Answer 6

The way a drug is absrobed, distributed, metabolised and eliminated (ADME)

Question 7

Pharmacodynamics

Answer 7

Biochemical and physiological effects of a drug
-When a drug interacts with a target

Question 8

Effects of pharmacogenetic variation

Answer 8

-Response to a drug
-Adverse drug reactions

Question 9

Pharmacogenomics

Answer 9

How an individuals entire genetic makeup of a specific population responds to a drug
(How a pop responds to a drug)

Question 10

E. Genetic variation affects pharmacokinetic profile of metabolism

Answer 10

-If a drug is metabolised too quickly, then it might not be as effective as it is eliminated before it can be effective. Conversely, if a drug is metabolised too slowly, it may reach excessive levels in the body and cause adverse effects
-When a drug is metabolised its active form becomes inactive

Question 11

Genetic variation effects on Distribution

Answer 11

If a drug requires transport into the cell and a variant prevents adequate transport and therefore uptake into the cell, the drug will not reach its intended target

Question 12

genetic variation can alter the pharmacodynamic effects of a drug

Answer 12

If a drug binds to a specific protein to have an effect, a change in a single base pair could change an amino acid in the protein. This could modify the way in which (and even prevent) a drug binds to the protein.

Question 13

what is Warfarin

Answer 13

Blood thinner: used to treat high blood pressure

Question 14

What is CYP2C9

Answer 14

-It is a detoxifiatory enzyme
-It is involved in metabolising warfarin: variations like CYP2C9 and CYP2C93 cause it to be metabolised slower
-They respond first to toxic chemicals
-CYP refers to the cytochrome P450 family

Question 15

What is VKORC1

Answer 15

It is involved in metabolism of vitamin K and so is engaged in thickening of blood in clotting
-Warfarin is used to block the action of genes to thin blood

Question 16

What is the relationship between CYP2C9 (coding), VKORC1 and warfarin

Answer 16

CYP2C9 metabolises the drug
-VKORC1 thickens the blood
-Both affect the dose needed for warfarin

Question 17

How can genetic variation in CYP2C9 (coding) and VKORC1 (promoter) impact warfarin treatment

Answer 17

CYP2C9 variations can lead to drug not being metabolised properly leading to too much drug in the system
VKORC1 variations can cause blood to be thicker than normal, requiring high amounts of the drug to be effective. Changes in promoter region -1639G/A
-Results in certain transcription factors being unable to bind which results in lower expression