9.1 Mutations Flashcards

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1
Q

what is a mutation?

A

changes in DNA base sequences of chromosomes

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2
Q

when do mutations occur?

A

they spontaneously occur during DNA replication

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3
Q

what type of gene mutations are there?

A

base additions
base deletions
base inversions
base substitutions

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4
Q

what type of gene mutations cause a frame shift?

A

base additions and deletions

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5
Q

what happens in base substitution?

A

where one base is swapped for another

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6
Q

what is the impact of gene mutations?

A

it could change the order of bases in a gene sequence or a/a

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7
Q

why could it change and not would change (during gene mutations)?

A

genetic code is degenerate
so it could make a new triplet that still codes for the same a/a

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8
Q

what a/a can a gene mutations have an impact on?

A

an a/a that is involved in the formation of ionic/H/disulfide bonds
an a/a that is located away from the active site

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9
Q

what happens if there’s a mutation on an a/a that is involved in the formation of ionic/H/disulfide bonds?

A

it changes the shape of the active site
the enzyme function changes

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10
Q

what happens if there’s a mutation on an a/a that is located away from the active site?

A

the 3rd structure is unchanged
shape of the active site is not changed
no change to enzyme function

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11
Q

why will a single base deletion/addition lead to the formation of a non-functional protein?

A

it’s a frame shift mutation
has knock-on effect by changing how the genetic code is read (it’s non-overlapping)
all triplets are changed - change in a/a seq, after point of deletion/addition
affects the bonds - changes 3rd structure - change in function

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12
Q

what can a chromosome mutation be? (change in what?)

A

change in whole sets of chromosomes
change in number of individual chromosomes

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13
Q

when do changes in whole sets of chromosomes occur?

A

when organisms have three or more sets of chromosomes

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14
Q

what is the condition called when there are three or more sets of chromosomes?

A

polyploid (in plants)

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15
Q

when do changes in individual chromosomes occur?

A

when individual homologous pairs of chromosomes fail to separate during meiosis

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16
Q

what is it called when individual homologous pairs of chromosomes fail to separate during meiosis?

A

non-disjunction

17
Q

what is the result of non-disjunction?

A

it usually results in a gamete having either one more or one fewer chromosome

18
Q

what are examples of chromosome mutations?

A
  • Down’s syndrome (additional chromosome 21)
  • Edwards syndrome (additional chromosome 18)
19
Q

what happens if a gene mutation changes the a/a sequence?

A
  • it could change the primary structure
  • therefore could changing the 3rd structure
  • could change the functionality or protein