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17 Cards in this Set
- Front
- Back
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· Base substitution
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One nucleotide replaces by another
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· Insertion / Deletion (indel)
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Removal or addition of one or a few base pairs DNA strand slippage causes indels
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Transitions
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Pyrimidine to Pyrimidine (T-C)Purine to purine (A-G)
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Transversions
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Pyrimidine to Purine (T-(A,G)§ Purine to pyrimidine (A-T,C)
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Silent mutation
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Do not influence reading
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Replacement or Non- synonymous:
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Altered codon specifies the different amino acid
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non sense
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altered codons signals chain termination
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Missense Mutation
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Conservative: Altered codon specifies achemically similar amino acid§ Non-conservative: Alters codon specifies achemically dissimilar amino acid.
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Frame shift
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Changes the reading frame and is an able to readsequence correctly
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· Splice site mutations
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o Splice sequences at the end and beginning ofexons are recognized by splicing enzymes mutations in these sequences willblock splicing = deletions in proteins
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Depuration
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chemical reaction to purine
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Deamination
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chemical reaction to amine removal of an aminegroup from a molecule.
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Oxidative Stress
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unpairs electron cause chemical damage to dna invariety of different ways
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Base excision repair
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Single line “non-bulky” damage to bases§ limited to single base removals § Can’t deal with distorted helix
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Nucleotideexcision repair (laxative)
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Single line § when doublehelix is distorted § Multiple bases are damaged§ Polymerase enzymes get “stuck”
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Nonhomologous end joining
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o Repairs double strand break o Enzymes clean up lesion and stick it backtogethero Some DNA is lost since both strand are broken § Strand homology is not used § “error prone”, results in small deletion
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Homologousrecombination
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Repairs double strand break using homologyo Mechanism is “error free” in contrast tonon-homoo Sister chromatid in meiosis used as template o Similar mechanism governs meiotic recombination
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