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22 Cards in this Set
- Front
- Back
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gross mutation |
mutations at the chromosome level |
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mutation that can be inherited |
germ line mutations |
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size of gross mutations |
4x10^6 base pairs |
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what type of mutation is visible under a light microscope? |
gross mutation |
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example of disease caused by reciprocal translocation |
chronic myelogenous lukaemia |
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reciprocal translocation |
section of one chromosome swaps with section of another chromosome |
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types of small scale mutations |
single base substitution, deletion of bases, insertion of bases, triplet repeat |
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silent mutations |
change in third base of the codon |
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why are silent mutations silent? |
'wobble' in translation means the same product may be produced |
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missense mutation |
changes codon to read as different amino acid |
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nonsense mutation |
changes a codon into a STOP codon |
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types of base substitution mutations |
silent mutation, missense mutation, nonsense mutation |
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frameshift mutation |
addition or deletion of base pair |
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consequence of frameshift mutation |
amino acid sequence downstream is dramatically altered. |
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PCR stands for... |
polymerase chain reaction |
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what molecule must be sythesised for PCR? |
primers specific to gene of interest |
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in PCR, what must be added to the primers and DNA? |
DNA polymerase |
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what does heating do in PCR |
separates strands |
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in PCR, what does cooling the separated strands of DNA allow? |
primers to anneal |
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in PCR, what happens when DNA polymerase is added to genes with annealed primers? |
replication |
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VNTR stands for... |
variable number of tandem repeats |
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SNP stands for... |
single nucleotide polymorphisms |
