1. Changes in DNA that affect genetic information
MUTATIONS
Changes in DNA that affect genetic information

2. Significance of Mutations
Most are neutral
Eye color
Birth marks
Some are harmful
Sickle Cell Anemia
Down Syndrome
Some are beneficial
Sickle Cell Anemia to Malaria
Immunity to HIV

3. What Causes Mutations?
There are two ways in which DNA can become mutated:
Mutations can be inherited.
Parent to child
Mutations can be acquired.
Environmental damage
Mistakes when DNA is copied

4. Mutation: damage to genetic material
A mutation to genetic material is usually not beneficial. Mutagens are things that cause mutations, they include:
1. High Temperatures
2. Toxic Chemicals (pesticides, etc)
3. Radiation (nuclear and solar)
Many common place items are capable of causing mutations: microwave, radar, cellular phones….

5. Types of mutations
Chromosomal: affecting whole or a part of a chromosome
Gene: changes to the bases in the DNA of one gene

6. } Gene Mutations: DNA base alterations Point mutation Insertion
Deletion
Inversion }
Frame Shifts

7. CGG CCC AAT to CGG CGC AAT Guanine for Cytosine
Point mutation (substitution) - when a base is replaced with a different base.
CGG CCC AAT to CGG CGC AAT Guanine for Cytosine
Insertion - when a base is added CGG CCC AAT to CGG CGC CAA T Guanine is added
Deletion - the loss of a base
CGG CCC AAT to CGG CCA A T loss of Cytosine
Example:
THE FAT CAT ATE THE RAT
THE FAT HAT ATE THE RAT
Example:
THE FAT CAT ATE THE RAT
THE FAT CAT XLW ATE THE RAT
Example:
THE FAT CAT ATE THE RAT
THE FAT ATE THE RAT

8. Frame Shift mutations
A frame shift mutation results from a base deletion or insertion. Each of these changes the triplets that follow the mutation.
Frame shift mutations have greater effects than a point mutation because they involve more triplets (recall how important triplets are to protein synthesis)

9. Gene Mutations
Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function.
Insertion
THE FAT CAT ATE THE RAT
THE FAT HCA TAT ETH ERA T
Deletion
TEF ATC ATA TET GER AT H H

10. Chromosome Mutations
Changes in number and structure of entire chromosomes
Original Chromosome ABC * DEF
Deletion AC * DEF
Duplication ABBC * DEF
Inversion AED * CBF
Translocation ABC * JKL
GHI * DEF

12. Mutations effect protein synthesis
Transcription: Mutated DNA will produce faulty mRNA leading to the production of a bad protein.

13. Protein shape determines how a protein will function
Protein shape determines how a protein will function. A change in one amino acid may change the shape enough to distort the protein (as in sickle cell disease). Thus, change in one base could potentially distort a whole protein. It is more likely that a frame shift mutation will change several triplets and distort a protein’s structure.

14. Sickle-cell Anemia