mutation Flashcards

1
Q

What is a mutation?

A

A change in DNA that can result in, no protein or altered protein being made.

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2
Q

What are the 2 possible results in mutation?

A

1) No protein being made
2) An altered protein being made

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3
Q

What is a single gene mutation?

A

A change in a single nucleotide

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4
Q

Name the 3 types of single gene mutations.

A

1) Substitution
2) Insertion
3) Deletion

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5
Q

What name is given when only 1 amino acid is altered, it may have no impact but could result in a nonfunctioning protein.

A

Missense

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6
Q

What causes a nonsense mutation?
what is the result of this?

A

A premature stop codon.
shorter/non functioning protein.

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7
Q

What name is given to a mutation where introns are mistakenly retained or exons are mistakenly removed?

A

Splice-site mutation

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8
Q

Name the type of single gene mutations that result in a frameshift mutation?

A

Insertion and deletion

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9
Q

What is the consequence of a frameshift mutation?

A

All the amino acids after the point of mutation will be changed.

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10
Q

Name the 4 types of chromosome mutation.

A

1) duplication
2) deletion
3) inversion
4) translocation

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11
Q

What is usually the result of a chromosomal mutation?

A

death

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12
Q

Describe duplication

A

When a section of a chromosome is copied from its homologous partner.

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13
Q

Describe deletion (chromosomal structure)

A

When a section of a chromosome is removed.

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14
Q

Describe inversion

A

When a section of a chromosome is reversed or flipped.

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15
Q

Describe translocation

A

When a section of a chromosome is added to a chromosome that’s is not it’s homologous chromosome.

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16
Q

What are the 2 types of mutation?

A

1) single gene mutation
2) chromosomal structure mutation

17
Q

What is substitution?

A

Where 1 nucleotide is removed and replaced by another single nucleotide. (A different base)

18
Q

What is insertion?

A

Where 1 nucleotide is added to the DNA sequence.

19
Q

What is deletion?

A

Where 1 nucleotide is removed from the DNA sequence.

20
Q

describe missense

A

when only 1 amino acid is altered, it may have no impact but could result in a nonfunctioning protein.