Higher 4-7 Topic 1

Question 1

What is a mutation?

Answer 1

A random change in dna that happens that can result in altered gene or no protein synthesised

Question 2

Single gene mutation?

Answer 2

Involves the change of dna nucleotide

• Substitution
• insertion
• deletion

Question 3

Nucleotides?

Answer 3

Bases

Question 4

Single nucleotide substitution

Answer 4

Changing one dna nucleotide for another

There’s 3 types
- missense
- nonsense
- splice site mutation

Question 5

Substitution
Missense?

Answer 5

Results in one amino acid being changed for another

Doesn’t have much change

(The base changes)

Question 6

Substitution
Nonsense?

Answer 6

When a amino acid gets changed for a premature stop codon which

can shorten protein

Question 7

Substitution
Splice site

Answer 7

When some introns stay/ get removed or exons get removed/kept.

Question 8

Frame shift mutation?

Answer 8

• deletion
• insertion

Change the main structure of transcript

Question 9

Deletion?
frame shift

Answer 9

Removal of a nucleotide

(Of a base making it shorter)

Question 10

Insertion?
frame shift

Answer 10

Addition of nucleotide

(Making the transcript longer)

Question 11

Chromosome structure mutations?

Answer 11

Chromosome mutations not genes

• Duplication
• Deletion
• Inversion
• Translocation

Question 12

What is duplication?
chromosome

Answer 12

Section of chromosome is added from its homologous partner

Question 13

Deletion?
chromosome

Answer 13

Section of chromosome is removed

Question 14

Inversion?
chromosome

Answer 14

Section of chromosome is reversed

Question 15

Translocation
chromosome

Answer 15

Part of dna is added from chromosome that’s NOT its homologous partner

Question 16

What is a genome?

Answer 16

It’s entire hereditary information encoded in dna

Hereditary = the transfer / passing of genes to one generation to another

Question 17

What is a genome made of?

Answer 17

Genes

Other dna sequence that do not code for protein

Question 18

Is genomic sequence important?

Answer 18

Sequences of nucleotide can determine individuals genes and entire genome

Question 19

Computer programs can be used to?

Answer 19

Identify base sequence by looking for similar known gene

They correspond to specific amino acid making a specific protein

Question 20

Why are pharmacogenetics important?

Answer 20

Helps predict liklihood of developing diseases

Uses genome info for the best choice of the most effect drug

Question 21

Why is personalised medicine important?

Answer 21

A person’s personal genome order can be used to select the best and most effective drugs and dosage to treat illness

Question 22

What are the type of steps in metabolic pathways?

Answer 22

• reversible
• irreversible
• alternative route

Question 23

Reactions that happen in metabolic pathways?

Answer 23

Catabolic
- break down of large molecules to smaller one, letting out energy

Anabolic
- builds up small molecules to bigger ones this needs energy

Question 24

What are metabolic pathways controlled by?

Answer 24

Presence or absence of specific enzymes

Regulation of the rate of reaction of key enzymes

Question 25

High affinity?

Answer 25

Substrate is attracted to active site of enzyme

Question 26

Low affinity?

Answer 26

When substrate has low attraction to active site of enzyme and allows the substrate to leave active site

Question 27

When does induced fit happen?

Answer 27

When active site changes shape to better fit substrate Can be a similar shape not exact Lowers activation energy Temperature needed for this reaction

Question 28

What factors effect enzyme rate of reactions?

Answer 28

- ph - substrate concentrate - temperature

Question 29

What is optimum?

Answer 29

When enzyme works its best When the most product is made When the time taken is short

Question 30

When can an enzyme be denatured?

Answer 30

When active site changes shape and stops working Mostly after optimum temperature and or ph

Question 31

High concentration of substrate + low rate of reaction? Low concentration of substrate and high concentration of product?

Answer 31

- increase rate of reaction -decrease rate of reaction

Question 32

Inhibitors?

Answer 32

Decrease enzyme activity

Question 33

Types of inhibitors?

Answer 33

- competitive - non competitive - feedback inhibition

Question 34

Competitive inhibitors?

Answer 34

Bind at the active site Can be reversed by increasing substrate concentration

Question 35

Non competitive inhibitors?

Answer 35

Bind away from the active site to the allosteric site Change shape of active site of enzyme Cannot be reversed (WAY worst than competive)

Question 36

Feedback inhibition?

Answer 36

When end product goes back to the beginning stopping the first substrate from making more product Prevents waste Controls pathway Changes shape of enzyme

Question 37

Leading and lagging strands?

Answer 37

one new strand (the leading strand) is made as a continuous piece. The other (the lagging strand) is made in small pieces.

Question 38

Tissue stem cells found in *bone marrow* give 4 examples of what is in it

Answer 38

- lymphocytes - Red blood cells - platelets - phagocytes

Question 39

Therapeutic uses for stem cells?

Answer 39

Corneal repair Skin repair

Question 40

Properties of stem cells?

Answer 40

- undifferentiated - can self renew

Question 41

Steps to cellular respiration?

Answer 41

- Glycolysis - citric acid cycle