Session 13: Mutations Flashcards

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1
Q

Give 3 examples of exogenous causes of mutations.

A
  1. Radon had from the ground
  2. Medical radiation e.g X-Rays
  3. Cosmic rays
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2
Q

Give 3 examples of endogenous mutations.

A
  1. DNA Replication
  2. Formation of free radicals (e.g. Through metabolism)
  3. Transposable elements
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3
Q

What is a transposable element?

A

Also known as a jumping gene. A specific DNA sequence which can transpose to random sites.

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4
Q

Name 3 features of a transposable element.

A
  1. Never in a free form
  2. Transposes as a decrete unit
  3. Supernumerary (many copies)
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5
Q

TRUE OR FALSE: Smaller genes are more easily disrupted by transposable elements.

A

FALSE

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6
Q

Define micro mutation.

A

A change in a single/ a few nucleotides

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7
Q

Define macro mutation.

A

The change in whole areas of a chromosome.

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8
Q

Name 3 types of micro mutation.

A
  1. Substitution
  2. Deletion
  3. Insertion
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9
Q

Name 5 types of macro mutations.

A
  1. Deletion
  2. Insertion
  3. Substitution
  4. Translocation
  5. Inversion
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10
Q

Define DNA transition mutation.

A

A chain to the same type of base. (I.e. Purine to purine, or pyrimidine to pyrimidine)

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11
Q

Define DNA transversion mutation.

A

A change to a different type of base. (I.e. Purine to pyrimidine)

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12
Q

Name 4 types of single nucleotide change mutations

A
  1. Change to gene product
  2. Change to gene product amount
  3. Change to polypeptide length
  4. No effect
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13
Q

Define missence mutation.

A

A single change in aa.

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14
Q

What is the name of the mutation that has no affect on the gene product or amount?

A

Silent/ neutral/ synonymous

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15
Q

Name three types of mutations what would lead to a change in the length of a polypeptide.

A
  1. Change in the stop codon
  2. Nonsense mutations (stop codon is introduced)
  3. Frame shift mutations
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16
Q

Give 4 examples of mutations what would affect the amount of gene product produced.

A
  1. Change in promoter activity
  2. Change in translation of initiation of start AUG
  3. Prevention of splicing
  4. Prevention of mRNA stability factors