Mutations

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Any heritable change in a gene
Mutation
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A mutation that forms in a cell that ultimately forms gametes
Germ line mutation
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A mutation that forms in a cell that doesn't form a gamete, it yeilds an organism that is mosaic of normal and mutant tissue
Somatic mutation
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A mutation whose affects can be turned on or off, as it produces changes in phenotype different sets of conditions
Conditional mutations
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A mutation that results in complete loss of function or inactivation
Loss of function mutation
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A mutation that reduces but doesn't eliminate the level of expression of a gene or the activity of the gene product
Hypomorphic mutation
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A mutation that produces a greater than normal level of gene expression
Hypermorphic mutation
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A nucleotide pair in a DNA duplex is replaced with a different nucleotide pair
Nucleotide substitution
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A pyrmidine base is replaced by another pyrimidine base
Transition mutation
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A pyrmidine base is replaced with a purine base
A transversion mutation
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Spontaneous nucleotide substitutions are often biased towards
Transition mutations
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If a mutation does not change the amino acid coded, this is called a
Silent mutation
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A ___________ is a chemical compound with a structure similar to a DNA nucleotide These can pair with normal nucleotides
Base analog
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Point mutations change ________________
Singe nucleotide pairs of a gene
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Substitutions are types of point mutations, they can be silent, nonsense and _____________
Missense
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Insertion/deletions are types of point mutations, they are _________
Frameshifts
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___________ are chemicals similar to normal DNA nucleotides but pair incorrectly during DNA replication
Nucleotide analogues
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The Luria Delbruck fluctuation test shows that
In bacteria mutations arise in the absence of selection, rather than as a response to selection
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Mutation frequencies ___________ among species or among genes of the same species
Differ significatley
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Sex chromosome linked mutations occur
In X or Y
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BrdU (bromeuracil) can base pair with A and (rarely) G, this is an example of a
Base analogue
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Deamination is a frequent mechanism of _________, deamination means the NH2 on a sugar is replaced with O
Transition mutation - eg purine-purine
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Visible mutations are ________
Morphological
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Nutritional mutations are __________
Biochemical
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Lethal mutations interrupt an essential process and result in ________
Death
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Creates no change to amino acid sequence
Silent
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Results in changes of one amino acid to another in the polypeptide
Missense
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Creates stop codon and prematurely terminates translation
Nonsense
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Results in the wrong amino acid sequences, occurs whenever the number of nuclotides inserted or deleted is not a multiple of three
Frameshift
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A wildtype gene is changed into a form that results in a mutant phenotype
Forward mutation
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An event that restores the wiltype phenotyoe is called a
Reversion / reverse mutation
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A second mutation that compensates for an orgininal mutation is
A supressor mutation
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If a supressor mutation occurs in the same gene
Intragenic
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If a supressor mutation occurs in a different gene
Intergenic
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Sickle cell aneamia is caused by
A missense mutation
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___________ measures the mutagenicity of compounds
The Aimes test
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Other transposable elements in bacteria are called _____ elements and only carry one gene, the product of which is required for their mobility - transposase
Insertion
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The transposable elements have inverted repeats on their end which form ________
Lollipop structures
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Transposons move via the _______ mechanism
Cut and paste
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Other cards in this set

Card 2

Front

A mutation that forms in a cell that ultimately forms gametes

Back

Germ line mutation

Card 3

Front

A mutation that forms in a cell that doesn't form a gamete, it yeilds an organism that is mosaic of normal and mutant tissue

Back

Preview of the front of card 3

Card 4

Front

A mutation whose affects can be turned on or off, as it produces changes in phenotype different sets of conditions

Back

Preview of the front of card 4

Card 5

Front

A mutation that results in complete loss of function or inactivation

Back

Preview of the front of card 5
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