1. Mutations
Aka, Pobody’s Nerfect

2. Could you imagine copying the New York City phone book perfectly
Could you imagine copying the New York City phone book perfectly? Do you think you might make a few errors?
The Human Genome (all of our DNA and genes) contains 3.2 billion base pairs. During DNA Replication, DNA makes an error every 100,000 base pairs and repairs it to an average of one error every 10 billion base pairs. That’s an average of 0.31 base pairs each time DNA is replicated.

3. What is a mutation? Gene mutation. Influences usually only one gene
A mutation is any change in an organism’s DNA
There are two types of mutations
Gene mutation. Influences usually only one gene
Chromosomal mutations. Changes in the structure of a chromosomes or the number of chromosomes

4. GENE MUTATIONS Point mutation There are two types of Gene mutation
Gene mutations are inheritable and can be passed on to the next generation
Point mutation
One nucleotide is changed or substituted for another base
These are usually fixed during replication
These are usually the driving forces of evolution
The difference between our hemoglobin protein (contains iron which carries the oxygen in our blood) and that of a gorilla is one amino acid in a chain of 146.

5. THE FAT CAT ATE THE RAT THE FAT BAT ATE THE RAT
Change the C in CAT to a B.
THE FAT BAT ATE THE RAT
Did this point mutation drastically change the meaning of the sentence?
This is a missense mutation. These are the type that drive evolution

6. If DNA reads: A T G G T C G A T T G G CAA
mRNA: U A C C A G C U A AC C GUU
Protein: Tyrosine - Glutamine – Leucine -Threonine – Valine
But if mRNA: U A C C A G C A A AC C GUU
Protein: Tyrosine – Glutamine – Glutamine – Threonine – Valine
Only 1 Amino acid in the sequence was altered.

7. Sickle Cell Anemia
Compare the DNA Sequence for Normal Red Blood cells How does the DNA Sequence for Sickled red blood cells compare? What was changed? The T in the normal sequence was changed to an A, causing the RBC’s to have a different structure. These sickled RBCs will not flow easily through the blood vessels and will also not carry as much oxygen, thus the anemia part of its name

8. Where in the World is Sickle Cell Anemia?
The highest incidents of SCA is found in Africa, Saudi Arabic and India.
1/500 people of African decent are carriers of the gene for SCA.
1/12 African Americas carry the gene.

9. THE FAT CAT ATE THE RAT Change the C in CAT to a K
THE FAT CAT ATE THE RAT Change the C in CAT to a K. THE FAT KAT AT THE RAT Has this changed the statement much? This is a silent mutation. The proper protein will still be produced

10. b. Frameshift mutations.
Involve the insertion or deletion of a nucleotide in a DNA sequence.
THE FAT CAT ATE THE RAT
Take out the F in FAT and then shift all the other letters over to still make a word with 3 letters.
THE ATC ATA TET HER AT
What is that? This makes no sense at all
These are the mutations that have the most drastic effect on the organism and will lead to a protein not being produced properly

11. If DNA reads: A T G G T C G A T T G G CAA
mRNA: U A C C A G C U A AC C GUU
Protein: Tyrosine - Glutamine – Leucine -Threonine – Valine
BUT if mRNA: U A C C A G U A A C C G U U _
Protein: Tyrosine - Glutamine STOP!!!
The entire sentence makes no sense. The protein formed would be totally different

12. Chromosomal Mutations
Involve changes in the number and structure of the chromosomes.
Could change the location of genes on the chromosomes or the number of copies of some of the genes.

13. Deletions – part of a chromosome is missing
Duplications – Extra copies of genes are inserted

14. Cri-du-Chat Syndrome Caused by a small deletion on chromosome #5
1/20,000 children
Breathing, talking, learning, heart and walking problems

15. Extra or Missing Chromosomes
During Meiosis (production of gametes with half the normal number of chromosomes) sometimes chromosomes don’t separate as they should Results in missing or extra chromosomes Trisomy 21 is an example

16. What can cause mutations?
Mutations happen all the time naturally.
Sometimes though, mutations are more likely to happen with certain environmental agents (called Mutagens) such as:
UV radiation from the sun
Pesticides and other toxic compounds
Asbestos
Cigarettes – causes 400,000 deaths in US/year
Marijuana