1.6 Mutations Flashcards

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1
Q

Define a ‘Mutation’

A

A random irreversible change to an organism’s DNA sequence resulting in no protein or an altered protein be produced

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2
Q

What are the two possible results of a mutation?

A
  • No protein produced

- Altered Protein

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3
Q

How can a mutation affect the phenotype?

A

Mutation will result in a change to amino acid sequence meaning altered protein / no protein produced. The proteins produced determines the phenotype. This means the phenotype is altered.

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4
Q

What are the three types of single gene mutations?

A
  • Substitution
  • Insertion
  • Deletion
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5
Q

What are three types of substitution mutations?

A
  • Missense
  • Nonsense
  • Splice Site
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6
Q

What is a missense substitution mutation?

A

Missense - causes the change to one amino acid

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7
Q

What is a splice site substitution mutation?

A

A mutation which changes the boundaries between exons and introns, resulting in introns staying in mature transcript

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8
Q

What is a nonsense substitution?

A

A mutation when one triplet is changed to form a stop codon

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9
Q

A nonsense mutation results in a … being produced which results in a shorter protein.

A

premature stop codon.

A nonsense mutation results in a premature stop codon being produced which results in a shorter protein.

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10
Q

What is the result of a missense mutation?

A

May result in a non-functional protein or have little a effect on the protein

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11
Q

What kind of substitution can result in a change to the mature mRNA transcript?

A

Splice site - results in introns being left in and alters final protein produced

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12
Q

What is a frame shift mutations?

A

Mutation resulting in all of the codons and all of the amino acids after the mutation to be changed

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13
Q

What type of single gene mutations result in a frame shift mutations?

A

Insertion

Deletion

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14
Q

What are the four types of chromosome mutations?

A

Duplication
Deletion
Inversion
Translocation

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15
Q

Describe an inversion chromosome mutation

A

An inversion mutation is where a segment of the chromosome breaks off, is inverted 180 degrees and attaches back onto the same chromosome

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16
Q

Describe a duplication chromosome mutation

A

A section of the chromosome is duplicated from the homologous partner and genes are repeated.

17
Q

What type of chromosome mutation decreases the length of the chromosome?

A

Deletion

18
Q

What is a translocation chromosome mutation?

A

Segment of chromosome breaks off and attaches to its non homologous chromosome partner

19
Q

Which type of chromosome mutation is most important in terms of evolutionary terms and why?

A

Duplication

  • provides extra genetic material
  • can undergo mutation
  • increases chance of a new gene being created
20
Q

What is the main difference between a gene mutation and a chromosome mutation?

A

Gene mutation - change to a single triplet of bases in a gene
Chromosome mutation - change to the gene sequence in a chromosome (structure of chromosome)