1. What is a mutation???

2. GENETIC MUTATIONS
MISTAKES IN DNA

3. A MISTAKE CAN BE:
1. A point mutation – substitution, addition, or removal of a single DNA base.
2. A frameshift mutation – a point mutation due to an addition or deletion of a DNA base that causes a major change in the genetic code.

4. Sickle cell anemia is caused by a point mutation - substitution
Val-his-leu-thr-pro-glu-glu
Val-his-leu-thr-pro-val-glu-

5. Muscular Dystrophy is caused by a frameshift mutation

6. THE CAT SAW THE DOG

7. CHANGE THE W TO A T: CHANGE THE D TO AN H THE CAT SAT THE DOG
THE CAT SAW THE HOG

8. MAJOR MISSENSE: REMOVE THE “C”
THE ATS AWT HED OG
This type of mutation causes a protein to be non-functional. It is a severe problem and can be lethal.

9. MAJOR MISSENCE: INSERT AN “M” after the first “The”.
THE MCA TSA WTH EDO G
The body cannot make sense out of the incorrect protein, just as the sentence no longer makes sense to you.

10. Nonsense
When a point mutation codes for a STOP in the middle of a sequence. Could be due to any of the point mutations.
Nonfunctional dystrophin, the protein that helps attach your skeletal muscle to its surroundings.

11. Some mutations involve whole chromosomes:
1. Deletion: A piece of a chromosome is lost because of breakage during cell division
Cri du chat

12. Inversion: A piece of a chromosome breaks off and reattaches backwards
Inversion: A piece of a chromosome breaks off and reattaches backwards. The effect can be lethal.

13. Duplication: A portion of the chromosome is copied and placed in the same chromosome.

14. Translocation: a piece of a chromosomes breaks off and reattaches to a non-homologous chromosome

15. Non-disjunction: A chromosome fails to separate from its homologue during meiosis

16. Turner’s Syndrome:

17. Klinefelter’s Syndrome:

18. Mutations in nature: