1. Topic: Genetic Changes
How can genetic information be altered?

2. Thought Questions How is reading the DNA like a recipe?
What happens when recipes go wrong?
How does a wrong recipe relate to having the wrong “DNA” recipe?

3. Mutations What do you think of when you think mutations?

4. Mutation Definition Rearrange
in a genetic that affect sequence genetic information DNA changes

5. What are genetic mutations?
genetic changes in a DNA sequence that affect genetic information

6. Can mutations be passed down?
Passed down through sex cells ONLY, not somatic cells
Mutations can be harmful when expressed, but can be hidden

7. Agents that Cause Mutations:
Environment
Mutagens: factors in the environment that can cause a mutation
Long term radiation exposure ( UV from the sun, radioactivity) cancer related
Chemical exposure ( formaldehyde, benzene, cigarette smoke)
pH, physical manipulation, temp Example: Temp. influenced : Himalyan Rabbit expresses genes in the winter( low temps) to make black fur for warmth.
*** Environment can influence genetic expression

8. Temperature Influences Trait
Rabbit expresses genes for a dark coat on particular parts of its body. When an ice pack is placed on its back, it too turns black
WHY DID THIS HAPPEN?

9. Two Major Types of Mutations: Chromosomal and Gene
A- Chromosomal mutations involve changes on complete chromosomes.
Ex: Inversion,Translocation, Deletion, Duplication
B- Point mutations happens when one nucleotide base is changed. Results in a frame shift mutation (the codon sequence is shifted)
Types: Substitution, Insertion, Deletion,

10. Types of Chromosomal Mutations- Inversion
Segment of the chromosome breaks off and reinserted in the same place but in the reverse direction relative to the rest of the chromosome

11. Types of Chromosomal Mutations- Translocation
Information from one of two homologous chromosomes breaks and binds to the other. Known as “jumping genes”

13. Types of Chromosomal Mutations- Duplication
segment of chromosome is repeated

14. Types of Chromosomal Mutations- Deletion
loss of some or all of the chromosome

16. Label the chromosomal mutation
Deletion
Duplication
Inversion
Translocation

17. Point Mutations- Substitution
Substitution = when one base is replaced with another
Can results in transcription and translation
of a different amino acid than expected.
Sickle Cell Anemia  disease where substitution occurs on one base. Valine is substituted for glutamic acid Results in the RBC having a sickle shaped instead of a round shape. RBC binds less oxygen.

19. Sickle Cell Anemia
Disease where an individuals red blood cells are sickle in shape due to a substitution mutation that occurs in the DNA sequence of their red blood cell. Valine is substituted for glutamic acid

20. Results of sickle cell anemia

21. Insertion Insertion= when bases are added to the DNA sequence
Results in the frame shift (bases move down) from the nucleotide sequences. Different (sometimes wrong or unwanted) amino acids are created into proteins

22. Deletion
Deletion= nucleotides are deleted, which affects the coding of proteins that use this DNA sequence

23. Results of Insertions & Deletion Mutations
Insertion and Deletion mutations cause the DNA sequence to be read incorrectly Frameshift change

24. Substitution Insertion Deletion

25. Results of a mutation
Results in a incorrect transcription and translation of DNA  can ultimately result in a different protein
Consequences: the protein may be the wrong protein that the cell needs or cellular function

26. RESULTS OF ALL TYPES OF MUTATIONS
Overexpression of protein instruction
No expression of protein instruction
Expression of wrong protein instruction

27. Human Diseases Caused By Mutations
Sickle Cell Anemia - substitution mutation
Huntington’s Disease - addition mutation
Tay-Sachs Disease - deletion mutation
PKU- phenylketonuria- chromosomal mutation

28. PKU-phenylketonuria
Missing enzyme that helps to breakdown phenylalanine. Genes are not expresses to make the enzyme phenylalanine hydroxylase

29. Recipe for a Ham & Cheese Sandwich (Normal)
Take 2 pieces of ham and place it on one slice of bread.
Add one slice of cheese on top of the ham.
Place one piece of lettuce on top of the cheese.
Place mayo on the second piece of bread.
Close the sandwich with the mayo on the inside.
Enjoy!

30. Name the mutation
Takke 2 pieces of hham and place it on one slice of bread.
Add one sliccce of cheese on top of the ham.
Ppplace one piece of leettuce on top of the cheese.
Place mayyyo on the seccond pieeece of bread.
Clossse the sandwich with the mayo on the inside.
Enjoyyyyyyy!

31. Name the mutation Enjoy! Place mayo on the.
Take 2 pieces of ham and on top of the ham. place it on one slice of bread.
Add one slice of cheese
Place one piece of lettuce on top of the cheese.
second piece of bread Close the sandwich with the mayo on the inside.
Enjoy!

32. Name the mutation
Take 2 pieces of ham and place it on one slice of bread.
Place mayo on the second piece of bread.
Close the sandwich with the mayo on the inside.
Enjoy!