W8L3 - Mutation Flashcards

(30 cards)

1
Q

What is a mutation

A

change in the nucleotide sequence of an organism’s DNA or RNA of a virus

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2
Q

What is a mutagen

A

A chemical, biological or physical agent that interacts with DNA and can cause a mutation

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3
Q

List small-scale mutations

A

Point mutations

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4
Q

What are large-scale mutations

A

Chromosomal mutations, aneuploidy and polyploidy

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5
Q

What are the types of point mutations

A

Silent, nonsense, missense

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6
Q

Where are gene regulatory regions often located in

A

outside of genes

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7
Q

What are silent mutations

A

Third nucleotide changed, AA(CHANGED) no effect

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8
Q

What are nonsense mutations

A

First letter changed ATC (A is changed) and stop codon is created

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9
Q

What is a conservative missense mutation

A

New amino acid is chemically similar, little to no impact, middle letter of codon is changed

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10
Q

What is a non-conservative Missense mutation

A

Chemically different, likely changes proteins structure, middle letter of codon is changed

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11
Q

What occurs in frameshift mutations

A

a nucleotide is added or removed, massive changes in amino acid sequence, nonfunctional, premature stop codon

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12
Q

What chromosomal abnormalities can occur

A

deletion, inversion, duplication, translocation

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13
Q

What is inversion

A

pieces of chromosome break apart, flip around and reattach itself in opposite orientation

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14
Q

What occurs in translocation

A

section of one chromosome breaks off and either attaches or switches with a section of another chromosome

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15
Q

What is polyploidy

A

entire set of chromosome replicated one or more times

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16
Q

What is aneuploidy

A

Abnormal number of individual chromosomes (e.g 1 more chromosomes added)

17
Q

How do mutations arise?

A

external mutagens (chemical, physical or biological) or spontaneous mutations (during errors in DNA replication)

18
Q

What are causes of induced mutations

A

Physical mutagens, Chemical mutagens, biological mutagens

19
Q

Examples of physical mutagens

A

UV light from the sun

20
Q

What are examples of chemical mutagens

A

chemicals like those found in tobacco smoke, asbestos

21
Q

What are examples of biological mutagens

A

viruses, certain bacteria and transposons

22
Q

What are the cause of spontaneous mutations

A

Mistakes by DNA poly not corrected by proofreading, spontaneous changes in structure of nucleotide

23
Q

What is pyrimidine dimer formation

A

When thymine or cytosine nucleotides in DNA covalently bond with an adjacent base

24
Q

What causes pyrimidine dimer formation

A

UVB radiation from sunlight

25
What do these pyrimidine dimers do
distort DNA helix, interfere with DNA replication and transcription
26
List the 4 step processes in DNA damage repair
Damage recognition, incision, gap filling, ligation
27
What occurs in damage recognition in DNA damage repair
specialised proteins bind to distorted DNA marking it for repair
28
What occurs in incision in DNA damage repair
Endonucleases make cuts on both sides of damaged dNA and the damaged DNA is cut out
29
What is Gap Filling in DNA damage repair
DNA polymerase fills in the gap by synthesising a new stretch of DNA
30
What is ligation in DNA damage repair
DNA strand is sealed by an ezyme called DNA ligase