#5: Mutations Flashcards

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1
Q

Mutation

A

permanent change in DNA sequence

  1. Heredity
  2. Acquired (through life)
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2
Q

Substitution Mutations

A

one nucleotide replaces another nucleotide

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3
Q
  1. Silent Mutation (Sub)
A

no change in amino acid coded for

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4
Q
  1. Missense Mutation (Sub)
A

a change in the amino acid coded for

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5
Q
  1. Nonsense Mutation (Sub)
A

substitution results in a stop codon

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6
Q

Substitution Diseases

A

Sickle cell anemia (Beta-hemoglobin protein – 147 amino acids)

GAG codon mutated to GUG (valine rather than glutamic acid)

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7
Q

Frameshift Mutations

A

changes the entire reading frame of mRNA

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8
Q

Deletion (Frameshift)

A

removal of nucleotide(s)

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9
Q

Insertion (Frameshift)

A

addition of nucleotide(s)

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10
Q

Frameshift Diseases

A

Chrohn’s

Insertion of C, with NOD2 gene, at position 3020 results in a premature stop

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11
Q

Causes of Acquired Mutations

A

mutations may be spontaneous through errors in DNA replication or they may be induced through environmental influences

induced mutations may be caused by such factors as: ultraviolet radiation, X-rays, chemicals

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12
Q

Inversion Mutation

A

2 adjacent bases trade places

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13
Q

Translocation Mutation

A

Movement of entire genes/ sequences of DNA chromosomes to another

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14
Q

Mutagen

A

Environmental agent that directly alters DNA within cell

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