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DNA Mutations and Repair
Chapter 17
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Mutation Rates and Frequency
1 to 10 mutations per million gametes Incidence within a group
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Causes of Mutations Spontaneous Induced
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Environmentally Induced DNA changes
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Intercalating agents Insert and distort DNA
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Radiation (Techa River) Hiroshima (Aug. 6th, 1945)
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Thymine Dimers SOS
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Chemicals and Reactions Leading to Mutations
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alklyating Deamination Adds OH
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Oxidative radicals Reactive forms of oxygen can lead to these radicals
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Detecting mutations with the AMES test
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THE AMES TEST Salmonella typimurium
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AMES TEST Saccharin Aflatoxin 2-aminofluorene
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Aflatoxin B1
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DNA Repair: general characteristics
Double stranded DNA Redundancy of pathways
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Types of DNA repair Mismatch repair Direct Repair Base-Excision Repair
Nucleotide Excision Repair
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Mismatch repair Mut H Recognize GATC hemi-methylation Mut S Mut L
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A closer look at mismatch repair
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DIRECT REVERSAL REPAIR
Direct Repair
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BASE EXCISION REPAIR
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BASE EXCISION REPAIR
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Nucleotide Excision Repair
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Diseases of DNA repair!
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Xeroderma pigmentosum
Autosomal recessive
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Hereditary Non-Polyposis Colon Cancer
HNPCC 15% of all colon cancers
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Li-Fraumeni P-53 mutation
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The End
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