Higher 4-7 Topic 1 Flashcards

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1
Q

What is a mutation?

A

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

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2
Q

Single gene mutation?

A

Involves the change of dna nucleotide

  • Substitution
  • insertion
  • deletion
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3
Q

Nucleotides?

A

Bases

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4
Q

Single nucleotide substitution

A

Changing one dna nucleotide for another

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

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5
Q

Substitution
Missense?

A

Results in one amino acid being changed for another

Doesn’t have much change

(The base changes)

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6
Q

Substitution
Nonsense?

A

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

can shorten protein

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7
Q

Substitution
Splice site

A

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

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8
Q

Frame shift mutation?

A
  • deletion
  • insertion

Change the main structure of transcript

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9
Q

Deletion?
frame shift

A

Removal of a nucleotide

(Of a base making it shorter)

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10
Q

Insertion?
frame shift

A

Addition of nucleotide

(Making the transcript longer)

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11
Q

Chromosome structure mutations?

A

Chromosome mutations not genes

  • Duplication
  • Deletion
  • Inversion
  • Translocation
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12
Q

What is duplication?
chromosome

A

Section of chromosome is added from its homologous partner

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13
Q

Deletion?
chromosome

A

Section of chromosome is removed

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14
Q

Inversion?
chromosome

A

Section of chromosome is reversed

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15
Q

Translocation
chromosome

A

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

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16
Q

What is a genome?

A

It’s entire hereditary information encoded in dna

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

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17
Q

What is a genome made of?

A

Genes

Other dna sequence that do not code for protein

18
Q

Is genomic sequence important?

A

Sequences of nucleotide can determine individuals genes and entire genome

19
Q

Computer programs can be used to?

A

Identify base sequence by looking for similar known gene

They correspond to specific amino acid making a specific protein

20
Q

Why are pharmacogenetics important?

A

Helps predict liklihood of developing diseases

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

21
Q

Why is personalised medicine important?

A

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

22
Q

What are the type of steps in metabolic pathways?

A
  • reversible
  • irreversible
  • alternative route
23
Q

Reactions that happen in metabolic pathways?

A

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

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

24
Q

What are metabolic pathways controlled by?

A

Presence or absence of specific enzymes

Regulation of the rate of reaction of key enzymes

25
Q

High affinity?

A

Substrate is attracted to active site of enzyme

26
Q

Low affinity?

A

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

27
Q

When does induced fit happen?

A

When active site changes shape to better fit substrate

Can be a similar shape not exact

Lowers activation energy

Temperature needed for this reaction

28
Q

What factors effect enzyme rate of reactions?

A
  • ph
  • substrate concentrate
  • temperature
29
Q

What is optimum?

A

When enzyme works its best

When the most product is made

When the time taken is short

30
Q

When can an enzyme be denatured?

A

When active site changes shape and stops working

Mostly after optimum temperature and or ph

31
Q

High concentration of substrate + low rate of reaction?

Low concentration of substrate and high concentration of product?

A
  • increase rate of reaction

-decrease rate of reaction

32
Q

Inhibitors?

A

Decrease enzyme activity

33
Q

Types of inhibitors?

A
  • competitive
  • non competitive
  • feedback inhibition
34
Q

Competitive inhibitors?

A

Bind at the active site

Can be reversed by increasing substrate concentration

35
Q

Non competitive inhibitors?

A

Bind away from the active site to the allosteric site

Change shape of active site of enzyme

Cannot be reversed

(WAY worst than competive)

36
Q

Feedback inhibition?

A

When end product goes back to the beginning stopping the first substrate from making more product

Prevents waste

Controls pathway

Changes shape of enzyme

37
Q

Leading and lagging strands?

A

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

38
Q

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

A
  • lymphocytes
  • Red blood cells
  • platelets
  • phagocytes
39
Q

Therapeutic uses for stem cells?

A

Corneal repair
Skin repair

40
Q

Properties of stem cells?

A
  • undifferentiated
  • can self renew