Classifying mutations Flashcards

1
Q

What are 3 ways to classify mutations?

A

At the DNA level, based on the change to the polypeptide, based on the effect on the function of the gene product

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2
Q

What is a base substitution?

A

One base is replaced by a different base

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3
Q

What are the two types of base substitutions?

A

Transitions and transversions

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4
Q

What is a transition mutation?

A

A purine gets replaced by another purine, or a pyrimidine gets replaced by another pyrimidine

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5
Q

What is a transversion mutation?

A

A purine gets replaced by a pyrimidine, or a pyrimidine gets replaced by a purine

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6
Q

What is the problem with classifying mutations based on their effect on the polypeptide?

A

Only applicable to mutations in the coding region of a gene

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7
Q

What is a silent mutation?

A

Causes no change in the encoded amino acid

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8
Q

What is a missense mutation?

A

Causes a different amino acid to be encoded

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9
Q

What are the two types of missense mutations?

A

Conservative: new amino acid has similar chemical properties

Non-conservative: new amino acid has different chemical properties

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10
Q

What is a nonsense mutation?

A

Causes an amino acid-encoding codon to be changed to a stop codon

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11
Q

What is a frameshift? What type of mutation causes these?

A

Causes a change in the reading frame. Caused by indels or larger insertions or deletions

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12
Q

What is an inversion?

A

A fragment gets cut out and its orientation gets reversed before getting ligated back in

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13
Q

What is a reciprocal translocation?

A

Two fragments from non-homologous chromosomes switch places

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14
Q

What is a non-reciprocal translocation?

A

A fragment from one chromosome replaces a fragment on a non-homologous chromosome, and the fragment from that other chromosome gets deleted

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