PGX (Genetics)

Question 1

DNA
- Bases
- How many chromosomes

Answer 1

ATGC bases

22 Pairs of Autosomes
1 Pair of Sex Chromosomes

Question 2

DNA
- Location
- Structure

Answer 2

Long molecule

Located in nucleus, packed into thread structures called chromosomes

Question 3

Function of Genes

Answer 3

Carries genetic info from one generation to the next

Question 4

Coding vs Non-Coding Genes

Answer 4

Non-Coding (98-99%) - Introns
- Regulates process of gene translation into proteins

Coding (1-2%) - Exons
- Contains blueprinds that encode for proteins

Question 5

Transcription

Answer 5

DNA –> mRNA

Introns are removed and exons are spliced together

Question 6

Translation

Answer 6

mRNA is read and translated into amino acid sequence (protein)

Question 7

mRNA to Protein Process

Answer 7

1. mRNA moves from nucleus to cytoplasm
2. mRNA attaches to ribosomes
3. Ribosomes call for transfer RNA
4. tRNA returns codon to original form
5. Codons encode for amino acids

Question 8

Coding Strand

Answer 8

Coding Strand = mRNA (U instead of T)

Question 9

Template Strand

Answer 9

Opposite of Template Strand = mRNA (U instead of T)

Question 10

SNP

Answer 10

Single Nucleotide Polymorphism
- 1-2% of the population

Groups usually share polymorphism (SNP)

Question 11

Where are SNP

Answer 11

Can be found in coding or non coding regions

Question 12

Synonymous Mutation

Answer 12

Polymorphism Location
- Coding Area

Polymorphism Function
- No Consequence

Question 13

Non-Synonymous

Answer 13

Polymorphism Location
- Coding Area
Polymorphism Function
- Yes Consequence

Missense
- Different a.a. is coded causing a slight change in functionality
Nonsense
- Premature stop resulting in protein affecting functionality

Question 14

Silent

Answer 14

Polymorphism Location
- Non-Coding Area
Polymorphism Function
- No Consequence

Question 15

Polymorphism Location
- Non-Coding Area
Polymorphism Function
- Consequences

Answer 15

Transcription
Splicing

Question 16

Poor Metabolizer

Answer 16

Little to no metabolism
- Responds poorly or not at all to drugs therapeutic effects

• Significant side effects

Question 17

Intermediate Metabolizer

Answer 17

Slower rate metabolism

Gains little benefit from drug

Side effects not as severe as poor metabolizer

Question 18

Extensive Metabolizer

Answer 18

AKA Normal Metabolizer

Average expected range of metabolism

• Few or no side effects (Low risk)
  -Gains benefit from drug (Higher chance)

Question 19

Ultrarapid Metabolizer

Answer 19

AKA Rapid Metabolizer

Metabolizes drugs too fast for therapeutic effect

Increased risk of adverse drug reaction
Virtually no benefit from drug

Question 20

Metabolism (Normal Drug)
- PM

Answer 20

1. Given Drug
2. Body is slow to break it down
3. Drug accumulates
4. Side Effects / Drug Overdose

Question 21

Metabolism (Normal Drug)
- UM

Answer 21

1. Given Drug
2. Body is fast to break it down
3. Little to no drug left
4. Little therapeutic effect

Question 22

Metabolism (Pro Drug)
- IM

Answer 22

1. Given Drug
2. Body does not convert prodrug to drug
3. Low bioavailability of active drug
4. No therapeutic effect

Question 23

Metabolism (Prodrug)
- UM

Answer 23

1. Given Drug
2. Body convert prodrug to drug at an accelerated rate
3. Too much active drug present
4. Overdose / Adverse Drug Reaction