1. Mutations
Hollywood’s images of
mutation

2. Mutations Severe Combined Immunodeficiency Disorder (SCID)
Ectrodactyly
Sickle Cell Anemia
Heterochromia iridium
Progeria
Hypertrichosis

3. 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
- bacterial resistance to antibiotics is an example of a beneficial gene mutation

4. 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

5. 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)

6. Gene Mutations 1. Point Mutations 2. Frameshift Mutations

7. Point Mutations Substitution
@A single nucleotide is Can change one amino acid in a protein
Milk – Mile
GGACAATCA GGACCATCA
proline -valine-serine proline-glycine-serine

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

9. 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

10. 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

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

12. Chromosomal Mutations

13. Chromosomal Mutations
Chromosomal mutations involve changes in the number or structure of chromosomes.

14. Chromosomal Mutations
Deletion involves the loss of all or part of a chromosome.

15. Chromosomal Mutations
Duplication produces an extra copy of all or part of a chromosome.

16. Chromosomal Mutations
Inversion reverses the direction of parts of a chromosome.

17. Chromosomal Mutations
Translocation occurs when part of one chromosome breaks off and attaches to another.

18. Harmful and Helpful Mutations
The effects of mutations on genes vary widely. Some have little or no effect; and some produce beneficial variations. Some negatively disrupt gene function.
@However, without mutations, organisms cannot
Mutations are the source of genetic variability in a species.

19. Harmful Effects
Some of the most harmful mutations are those that dramatically change protein structure or gene activity causing genetic disorders.
Some cancers, for example, are the product of mutations that cause the uncontrolled growth of cells.

20. Harmful Effects
Sickle cell disease is a disorder associated with changes in the shape of red blood cells. Normal red blood cells are round. Sickle cells appear long and pointed.
@Sickle cell disease is caused by a point mutation in one of the polypeptides found in (the blood’s principal oxygen-carrying protein)

21. Beneficial Effects
Mutations often produce proteins with new or altered functions that can be useful to organisms in different or changing environments.
For example, mutations have helped many insects resist chemical pesticides.

22. Beneficial Effects
Plant and animal breeders often make use of “good” mutations.
The condition in which an organism has extra sets of chromosomes is called polyploidy.