Mutagenesis Flashcards

1
Q

What does a change in genetic code result in?

A

Different amino acids being coded for

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2
Q

What does a change in primary sequence result in?

A

Change in shape, and therefore function, of a protein

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3
Q

What are point mutations?

A

Base mutations - transition or transversion (silent, missense, nonsense if in the coding region of the protein)

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4
Q

What is the result of a point mutation that is not in the coding region of a protein?

A

Alteration of binding sites, promoter sequences, splice sites etc

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5
Q

What is a frameshift mutation?

A

Addition or subtraction of nucleotides not in multiples of 3

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6
Q

What is a silent mutation?

A

A mutation that doesn’t alter the amino acid specified and thus doesn’t alter the sequence

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7
Q

What is a missense mutation?

A

A mutation that replaces one amino acid with another

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8
Q

What is a nonsense mutation?

A

A mutation that changed the amino acid specified to a stop codon

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9
Q

What is a spontaneous mutation?

A

Not caused by exposure to a known mutagen, errors in DNA replication, DNA bases have slight chemical instability

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10
Q

What determines the rate of spontaneous mutations in genes?

A

Size and sequence

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11
Q

What are induced mutations?

A

Mutations cause by chemicals (mutagens) or cancers caused by chemicals (carcinogens)

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12
Q

What do alkylating agents do?

A

Remove a base

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13
Q

What do acridine agents do?

A

Add or remove a base

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14
Q

What do X-rays do?

A

Break chromosomes/delete a few nucleotides

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15
Q

What does UV do?

A

B- produces vitamin D, B/C - destroy vitamin A, A/B/C - damage to collagen fibres. Creates thymidine dimers

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16
Q

What is mismatch repair?

A

Enzymes detect nucleotides that don’t base pair in newly replicated DNA. Incorrect base is excised and replaced. Detection of mismatches is called proofreading

17
Q

What is excision repair?

A

Damaged DNA is removed by excision of bases and replacement by DNA polymerase

18
Q

What does nucleotide excision do?

A

Replaces up to 30 bases and is used in repair of UV damage and some carcinogens

19
Q

What does base excision do?

A

Replaces 1-5 bases and repairs oxidative damage

20
Q

What is p53 and what is its function?

A

It’s a protein that monitors the repair of damaged DNA and if it’s too damaged then it promotes apoptosis.

21
Q

How are tumours formed?

A

Derived from individual abnormal cells, arise from lack of normal growth control, multistep process, more likely to arise in cells undergoing frequent cell division, same type

22
Q

What are oncogenes?

A

Genes involved in the control of cell division. Present in normal cells, many different classes may stimulate/inhibit growth.

23
Q

What do tumour suppressor genes do?

A

Genes involved in protecting the cell against one step on the path to cancer

24
Q

How do oncogenes arise?

A

In cells they are usually proto-oncogenes. When they are mutated they become oncogenes

25
Q

What ethical issues can arise from genetic testing?

A

Prenatal use, abortion, someone else finding out indirectly etc