Mutations Flashcards

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1
Q

What is a mutation?

A

A change in an organism’s DNA.

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2
Q

What can a mutation result in?

A

No protein being synthesised or an altered protein being synthesised.

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3
Q

What is the frequency of mutations?

A

They are spontaneous and random - tend to be recessive so appear in a low number of the population.

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4
Q

What can cause an increase in mutations?

A

Mutagenic agents.

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5
Q

What is the effect of mutation on an individual?

A

Usually has negative effects, however, sometimes they give an advantage to the individual and become a driving factor of evolution.

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6
Q

Gene mutations involve the alteration of what?

A

A DNA nucleotide sequence.

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7
Q

What are the three types of gene mutations?

A
  • substitution
  • insertion
  • deletion
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8
Q

What is a gene mutation by substitution?

A

A single nucleotide is replaced with a different nucleotide.

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9
Q

What is gene mutation by insertion?

A

A single nucleotide is added into a DNA sequence.

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10
Q

What is gene mutation by deletion?

A

A single nucleotide is removed from a DNA sequence.

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11
Q

What is a missense mutation?

A

One amino acid is changed for another resulting in a non-functional protein or it could have little effect on the protein.

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12
Q

What’s a good way to remember missense mutations?

A

MISsense - MIStake

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13
Q

What is a nonsense mutation?

A

A codon used to code for an amino acid is changed to stop a codon meaning a short protein will be produced.

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14
Q

How to remember nonsense mutation?

A

Stop that nonsense.

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15
Q

What is a frameshift mutation?

A

Cause all codons and amino acids after the mutation to be changed, creating a major effect on the structure of the protein produced.

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16
Q

What is a splice site mutation?

A

A mutation at the splice site may cause the codon for the intron or exon to be affected - the intron may be kept or the exon could be cut out.

17
Q

What are the two types of mutation?

A
  • gene

- chromosome

18
Q

What are the four types of chromosome mutation?

A
  • duplication
  • deletion
  • inversion
  • translocation
19
Q

What is chromosome mutation by duplication?

A

Genes from one chromosome attach to their homologous partner (matching chromosome) leading to repeated genes.

20
Q

What is chromosome mutation by deletion?

A

Chromosome breaks in two places and the middle segment is detached. When it rejoins it is shorter and has lost genes.

21
Q

What is chromosome mutation by inversion?

A

Chromosome breaks in two and the segment turns around and reattaches, causing the reversal of the normal sequence of genes.

22
Q

What is chromosome mutation by translocation?

A

Chromosome section breaks off and attaches to another chromosome that is not its homologous partner.

23
Q

What in the genes and chromosomes are important for evolution?

A

Mutations and gene duplication as they are the starting point of evolution.