Mutations Flashcards

1
Q

Types of mutations

A
  • Single gene

- Chromosome structure

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2
Q

What are mutations?

A

A change in the DNA sequence which results in phenotypic alterations. Can result in no protein or an altered protein being synthesised

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3
Q

When do mutations occur?

A

Occur naturally in every population, can occur spontaneously.

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4
Q

Single gene mutations

A

Mutation in the sequence of bases in DNA and can be described according to the effect that they have on the base sequence

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5
Q

Types of single gene mutations

A
  • Substitution
  • Insertion
  • Deletion
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6
Q

Single gene- Substitution

A

One base is replaced with another, affects one (If any) amino acid in the encoded protein. Referred to as point mutations

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7
Q

Types of substitution

A
  • missense
  • nonsense
  • splice site
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8
Q

Substitution- Missense

A

A change of single base pairs causes the substitution of a different amino acid in the resulting protein

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9
Q

Substitution- Nonsense

A

Substitution of a single base pairing that leads to the appearance of a stop codon in place of a codon specifying an amino acid

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10
Q

Substitution- Splice site

A

Alters the specific sequence denoting the site at which the splicing of an intron takes place

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11
Q

Frameshift

A

Insertion and deletion mutations that change the reading frame (pattern of base triplets in the DNA that is transcribed into mRNA)

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12
Q

Single gene- Insertion

A

The addition of one or more nucleotides into DNA.

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13
Q

Single gene- Deletion

A

The removal of one or more nucleotides from the DNA

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14
Q

Single gene- Insertion and Deletion

A

If it occurs in a protein coding gene it usually has a dramatic effect on the amino acid sequence of the encoded protein. All of the codons in the mRNA that appear after the mutation have changed and as a result the amino acids in the protein are also different.

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15
Q

Chromosome mutations

A

A mutation to a chromosome usually involves a substantial change to its structure so that a mutation is lethal.

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16
Q

Types of chromosome mutations

A
  • Deletion
  • Duplication
  • Inversion
  • Translocation