1. Genetic Mutations

2. Mutations- changes in the DNA code
+ changes results in improved success to the individual
neutral(Ø) changes results has no effect
- changes results in creating a disadvantage

3. Neutral effects-Alleles

4. Neutral Effects-Alleles
Asp294His

6. Small-Scale - Mutations
point mutations (single base pair)
Substitution
Insertion/deletion
Inversion (switch two adjacent bases)

8. Point mutation (One letter wrong)
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12. Point Mutation (one letter wrong)
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Ataluren is a drug that is being tested for use on patients with nonsense mutation-causing genetic disorders such as some types of cystic fibrosis and some types of hemophilia.

13. Effects of Point Mutations
(substitution)
• silent mutations (no effect)
missense mutations (one amino acid change)
nonsense mutations (one point mutation that can terminate the translation)
(deletion/insertion)
frameshift mutations - (affects every codon down the line)

17. Image from: http://ghr.nlm.nih.gov/handbook/illustrations/frameshift

19. Large-Scale Mutations
involve multiple nucleotides, entire genes, or whole regions of chromosomes

20. Eg. deletion of all or part of the gene for the protein dystrophin results in muscular dystrophy

22. Large-Scale Mutations
translocations are the movement of entire genes or DNA sequences from one chromosome to another
inversions

23. Translocation
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24. Inversion
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25. Warning: Mutations
Image from: packaging-march_n_ html

26. Warning: Mutations
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27. UV exposure

28. Causes of Mutations
spontaneous mutations can be caused by errors in replication
induced mutations are caused by environmental agents (mutagens)