2. Mutations
Hollywood’s images of
mutation

5. Mutations
Actual Mutations
in fruit flies

8. What is a mutation? A mutation is any change in a cell’s DNA
A mutation can occur in an individual gene
- results in a single changed protein
- cystic fibrosis a mutation in the protein that makes a type of ion channels in cell membrane
- bacterial resistance to antibiotics is an example of a beneficial gene mutation

9. What is a mutation continued
A mutation can occur in a chromosome
- a chromosome contains many genes
- chromosomal mutations affect many
proteins
Examples: Down Syndrome
Edward’s Syndrome
Cri-du-Chat

10. What Causes Mutations?
Can be caused by mutagens- a physical or chemical cause of mutation. Examples: UV light, radiation, drugs, and benzene.
Mutagens are often also carcinogens – anything that causes cancer
Can be natural, random events.
- mutations occur in 1/100,000 DNA replications
Mutations do not have to be bad (evolution)

11. Point Mutations
A single nucleotide is altered. Can change one amino acid in a protein
Example of a point mutation is a substitution
Milk – Mile
GGACAATCA GGACCATCA
proline -valine-serine proline-glycine-serine

12. Frameshift Mutations
A nucleotide is either inserted or deleted from a gene.
-all of the triplets from the point of mutation onward will be changed

13. Frameshift Mutations Insertion
An insertion occurs when a nucleotide is added to a gene
Example: A nucleotide is inserted
The fat cat ate the rat
The faa tca tat eth era t
-the extra nucleotide shifts all of the triplets that follow

14. Frameshift Mutations Deletions
A deletion occurs when a nucleotide is removed from a gene.
Example: A nucleotide is removed
The fat cat ate the rat
Thf atc ata tet her at

15. proline -valine-serine arginine-cysteine-stop Deletion
Insertion
GGACAATCA GCGACAATCA
proline -valine-serine arginine-cysteine-stop
Deletion
GGACAATCA GGAAATCA
proline -valine-serine proline-leucine

16. Vocabulary Mutation Mutagen Carcinogen Point mutation
Frameshift mutation
- insertion
- deletion

17. Mutations Chromosomal Mutation:
change in the structure or number of chromosomes in a cell; usually caused by problems during meiosis or a mutagen
Mutagen:
an agent that causes a DNA mutation Ex: UV, radiation…

18. Chromosomal Mutations
Deletion: a mutation in which part of the chromosome or a sequence of DNA is missing

19. Chromosomal Mutations
Duplication: a mutation in which part of the chromosome or a sequence of DNA is repeated

20. Chromosomal Mutations
Inversion: a mutation in which part of the chromosome or a sequence of DNA is flipped or rotated

21. Chromosomal Mutations
Translocation: a mutation in which part of the chromosome or a sequence of DNA is removed from one chromosome and relocated or attached to another chromosome