Classification of Gene Mutations Flashcards

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1
Q

what would there not be without variation from mutations

A

no phenotypic variability
no adaption to environmental change
no evolution

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2
Q

e.g of what bad things mutations can lead to

A

cell death
genetic diseases
cancer

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3
Q

what would be impossible without mutations

A

genetic analysis

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4
Q

what’s a mutation

A

the alteration in nucleotide sequence of an organism’s genome

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5
Q

3 things a mutation might be

A

single base-pair substitution
deletion
insertion of 1/more base pairs

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6
Q

e.gs of non coding regions where mutations may occur

A

introns
promoters
enhancers
splicing signals

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7
Q

how do mutations get in germ cells

A

inherited

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8
Q

what do germ cell mutations cause

A

genetic diversity
evolution
genetic disease

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9
Q

what cells don’t carry heritable mutations

A

somatic cells

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10
Q

5 main types of mutations

A
point mutation/ base substitution
missense mutation
nonsense mutation
silent mutation
Frameshift mutation
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11
Q

what is a point mutation

A

change of 1 base to another (base substitution)

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12
Q

what’s a missense mutation

A

change of 1 nucleotide of a triplet in a protein-coding part of gene

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13
Q

what is a triplet changed into in nonsense mutations

A

a stop codon

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14
Q

describe a silent mutation

A

point mutation alters a codon but doesn’t cause an Amino acid change

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15
Q

why are most mutations in eukaryotes neutral mutations

A

as genomes contain a lot more non coding DNA

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16
Q

what’s transition a point mutation base change in

A

pyrimidine replaces pyrimidine

purine replaces purine

17
Q

what happens in a transversion

A

purine replaces pyrmidine + vice versa

18
Q

what are frameshift mutations

A

the insertion/deletion of 1/more nucleotides at any point in a gene

19
Q

what do frameshift mutations cause to change

A

all subsequent 3 letter codons

20
Q

what codon can terminate polypeptide synthesis (one of many altered triplets)

A

translation termination codon

21
Q

what can frameshift mutations produce

A

a truncated protein/ defective enzymes