Mutations Flashcards

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1
Q

what are mutations?

A

a sudden change in the amount or arrangement of genetic material in a cell

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2
Q

what is a gene mutation?

A
  • change in sequence of bases in DNA
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3
Q

state two types of gene mutations

A
  • base substitution

- base deletion

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4
Q

what is base substitution?

A

nucleotide is replaced by another

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5
Q

how does base substitution affect the amino acid sequence and what consequences can arise?

A
  • some mutations do not affect the sequence due to degenerate nature of genetic code
  • however, if the mutation affects the sequence, then mRNA copy is altered - different complementary anticodon of tRNA - so different primary structure so altered tertiary structure will affect the active site. This could produce a non-functional protein
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6
Q

what is base deletion?

A

nucleotide is lost from DNA sequence`

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7
Q

what is the effect of deletion?

A
  • causes frameshift
  • different amino acid sequence
  • polypeptide unlikely to function
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8
Q

what can affect the rate of gene mutation?

A

mutagenic agents increase the rate

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9
Q

what is a chromosome mutation

A

change in the structure or number of whole chromosomes

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10
Q

what is the term to explain when there is three or more sets of chromosomes?
- in which organisms does this usually occur?

A
  • polyploidy

- in plants

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11
Q

what is the term to explain when a pair of chromosomes fail to separate in meiosis?

A

non-disjunction

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12
Q

give an example of a condition due to non-disjunction

A

down’s syndrome - gamete has extra chromosome so offspring has extra chromosome (21)

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13
Q

will the mutation be inherited in somatic mutation?

A

no

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14
Q

will the mutation be inherited in gametic mutation

A

yes

- occurs in gomads

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