genetics test 2 mutations ch 16

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Anonymous
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287597
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genetics test 2 mutations ch 16
Updated:
2014-10-30 20:24:39
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genetics mutations
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  1. mutations-recombination
    raw material for evolution
  2. Types of mutations
    • -only focusing on gene mutations
    • 1. mutations affecting single base-pairs 
    • 2." " alter the # if copies of small repeated sequences.
    •  ex Fragile x
  3. Point mutations
    • 1. Base substitutions
    • Transition
    •      -purine ---> purine A to G
    •      -Pyrimidine ----> purine C to T
    • Transversion
    •      -purine ----->pyrimidine C to A or G
  4. Point mutations -"Indels"
    Insertions or deletions
  5. Functional Consequences (@ protein)
    1. Frameshift 
    • 1. Frameshift (when insertion or deletion)
    • AAG ACT CCT wild type
    •         ^insert G
    • AAG AGC CTC T..
    • Better of it happens later on in the sequence.
  6. Functional Consequences (@ protein)
    2. silent
    • (synonymous) = same AA
    • AGG -----> CGG
    • Arg             Arg
  7. Functional Consequences (@ protein)
    3. missense
    • (non-synonymous) = diff AA
    • AAA -----> AGA  - variable affect on protein  Lys            Arg
  8. Functional Consequences (@ protein)
    4. nonsense
    • = stop codon
    • CAG ----->      UAG
    • Glutamine(?)   Amber stop
  9. causes
    • spontaneous (internal)
    • induced (external)
  10. spontaneous (internal)
    • 1. DNA Polymerase can insert wrong base
    • -often due to tautomers*
    • 2. metabolic by-products:
    • example - reactive oxygen
    • H2O2, O*2 -superoxide, *OH
    • - can result in mispairing, transitions/tranversion
    • @ replications
    • 3. Depurination
    • - covalent bond between the sugar and base (purine A,G) is slightly unstable. -->
    • H2O can react and cause the base to detatch.
    • A C G T  G leaves
    • T G C A
    • 4. Deamination: remove amine
  11. Tautomers
    • -base analogs
    • - They are isomers, that differ in the positions of atoms/bonds

    • -The problem is these can pair in abnormal conbinations
    •  T-G   A-C
  12. Induced
  13. Induced
    1. Chemicals mutagens
    - Similar to spontaneous, just external cause
  14. Induced
    2. Physical mutagens
    • X-rays, gamma: tend to nick (can be ss break or ds break (translocation) the backbone),
    • 2. Delete bases
    • 3. Oxidizing base

    UV = causes alterations in DNA called "photoproducts"

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