Mutations Flashcards

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1
Q

Define a mutation

A

Changes in the DNA

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2
Q

The type of mutations that arise from the alteration of DNA
nucleotide sequence?

A

Single gene mutations

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3
Q

Name the three types of single-gene mutations

A

substitution, insertion and deletion

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4
Q

Name the three different nucleotide substitution mutations

A

Missense, nonsense and splice-site

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5
Q

What happens as a result of a missense mutation?

A

One amino acid is changed for another

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6
Q

How do missense mutations
affect the protein produced?

A

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

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7
Q

What happens as a result of a
nonsense mutation?

A

One amino acid codon is replaced
by a stop codon

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8
Q

How do nonsense mutations affect
the protein produced?

A

Produces a shorter protein

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9
Q

What are splice-site mutations?

A

Mutations that result in some
introns being retained and/or some
exons not being included in the
mature transcript

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10
Q

Name the 2 frameshift mutations

A

Insertion and deletion

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11
Q

How do frame-shift mutations
affect the protein strand being
produced?

A

They cause all the codons and
therefore amino acids after the
mutation to be changed

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12
Q

Name 4 the different chromosome
structure mutations

A

Duplication, deletion, inversion and
translocation

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13
Q

What is a duplication mutation?

A

Where a section of a chromosome
is added from its homologous
partner

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14
Q

What is a deletion mutation?

A

Where a section of chromosome is
removed

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15
Q

What happens to the chromosome in
an inversion mutation?

A

A section of a chromosome is
reversed

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16
Q

What happens in a translocation
mutation?

A

A section of a chromosome is
added to a chromosome that is not
its homologous partner

17
Q

How can chromosome mutations
affect the organism?

A

They can often be lethal