1. Image Accessed 01/04/2011 Mutations On the following slides, the orange sections identify the summary; underlined words = vocabulary! Hyperlinks are in turquoise.

2. Image Accessed 01/04/2011 The Verbiage: Mutant What is the meaning of the word mutant? How does it relate to the word mutation? On the post-it note, jot down some definitions in your own words.

3. Image Accessed 01/04/2011 Is this a mutant?

4. Image Accessed 01/04/2011 These mutants! Albinism Sickle Cell Hemophilia Dwarfism http://upload.wikimedia.org/wikipedia/commons/thu mb/9/9a/Albinisitic_man_portrait.jpg/230px- Albinisitic_man_portrait.jpg http://i.i.com.com/cnwk.1d/i/tim/2012/01 /04/AP1111141114811RyanClark_620 x350.jpg http://www.hemophilia-information.com/history-of- hemophilia.html http://www.fansofrealitytv.com/forums/imagehosting/2459 3efbbf0194.jpg

5. Image Accessed 01/04/2011 Knowledge Check What is a gene? Where does the information for a “gene” come from? Turn and talk to your neighbor. http://www.accessexcellence.org/RC/VL/GG/imag es/genes.gif

6. Image Accessed 01/04/2011 What is a mutation? A mutation is a change in the DNA base sequence. –What would happen if a mutation occurs in a gene? –The protein created could be changed! –AnimationAnimation

7. Image Accessed 01/04/2011 http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/08-16_Substitution_1.jpg

8. Image Accessed 01/04/2011 Point Mutations Point mutations occur when there is a change in a single nucleotide of a DNA sequence. There are three types: –Missense –Nonsense –Silent Animation http://animalsciences.missouri.edu/biotech/low/basics/prot ein/10-mutation/point_mutation/point_mutation.gif

9. Image Accessed 01/04/2011 Knowledge Check What amino acid does the DNA sequence “CAT” code for? Turn and talk to your neighbor. http://1.bp.blogspot.com/-cVyodqtS0R8/UIYZ-2JehVI/AAAAAAAAAK0/TpvG7nXYTHo/s640/codon_table.jpg

10. Image Accessed 01/04/2011 Point Mutations Cont. Point silent mutations occur when there is no change in the resulting protein. –CAT (Original; AA = Val) –CAC (Mutation; AA = Val; silent) http://biology.unm.edu/ccouncil/Biology_124/Images/codon%20chart.gif

11. Image Accessed 01/04/2011 Point Mutations Cont. Point missense mutations occur when there is a change in the resulting protein. –CAT (Original; AA = Val) –CCT (Mutation; AA = Gly; Missense) http://wiki.ggc.edu/images/b/b8/Missense.jpeg

12. Image Accessed 01/04/2011 Knowledge Check What amino acid does the DNA sequence “ATG” code for? What about “ATT”? Turn and talk to your neighbor. http://1.bp.blogspot.com/-cVyodqtS0R8/UIYZ-2JehVI/AAAAAAAAAK0/TpvG7nXYTHo/s640/codon_table.jpg

13. Image Accessed 01/04/2011 Point Mutations Cont. Point nonsense mutations occur when there is a change in the resulting protein because of an early stop codon. –ATG (Original; AA = Val) –ATT (Mutation; Stop; nonsense) http://ghr.nlm.nih.gov/handbook/illustrations/nonsense.jpg

14. Image Accessed 01/04/2011 Frameshift Mutations Frameshift mutations completely change how codons are read in a gene because of an insertion or deletion. Animation Animation - insertion occurs when 1+ nucleotides are added to the gene. - deletion occurs when 1+ nucleotides are removed from the gene.

15. Image Accessed 01/04/2011 http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/10th_ed_figures/figure_08_17_labeled.jpg

16. Image Accessed 01/04/2011 Fall Semester Break The information on the following slides will be covered in the spring semester. Do not continue. Review Animation http://www.beltina.org/pics/mutation.gif

17. Image Accessed 01/04/2011 Karyotype A karyotype is a picture of the chromosomes of an organism arranged from largest to smallest; a tool used to diagnose chromosomal disorders. http://www.biotechnologyonline.gov.au/images/contentpages/karyotype.jpg

18. Image Accessed 01/04/2011 Normal Male (XY) Males: 46 xsomes (23 pairs) X and Y chromosomes are the sex xsomes for males.

19. Image Accessed 01/04/2011 Normal Female (XX) Females: 46 xsomes (23 pairs) Two X chromosomes are the sex xsomes for females. http://www.daviddarling.info/images/karyotype.jpg

20. Image Accessed 01/04/2011 The Verbiage: Aneuploid Aneuploid - having a chromosome number that is not an exact multiple of the usually haploid number

21. Image Accessed 01/04/2011 Common Chromosomal Disorders Down Syndrome - Extra chromosome; Trisomy 21 –What It’s Like ArticleWhat It’s Like Article Edward Syndrome – Extra chromosome ; Trisomy 18 Patau Syndrome – Extra chromosome ; Trisomy 13 Female Disorders: –Metafemale – XXX –Turner syndrome – X (missing 2 nd x); Monosomy X Video Male Disorders: –Klinefelter syndrome – XXY More Information & Support –Jacob syndrome – XYY

22. Image Accessed 01/04/2011 http://img.wikinut.com/img/1cbm3q6ouuwy8fu1/jpeg/0/Ed ward-s-Syndrome.jpeg http://www.lifeinflux.com/wp-content/uploads/2011/09/becky.jpg Johnson, Paul A. "Trisomy 13." The Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. 2nd ed. Vol. 2. Detroit: Gale, 2005. 1284-1287. Gale Virtual Reference Library. Web. 13 Jan. 2014. http://drugline.org/img/ail/2082_2095_3.jpg http://www.propagator.gr/mysite/index.php?option=com_c ontent&view=article&id=220&Itemid=685 http://intersexual.files.wordpress.com/2011/03/xyy1.jpg

23. Image Accessed 01/04/2011 Get it? Got it? Good! 1.What is the sex of parent (A, left)? Explain. (B, right)? Explain. 2.Which parent (A) or (B) would pass a mutation to their child? Explain.

24. Image Accessed 01/04/2011 Chromosomal Mutations Chromosomal mutations result from a change in the # or structure of chromosomes. They can include “extra” chromosomes or parts moved or missing. http://employees.csbsju.edu/hjakubowski/classes/ch331/dna/mutation2.gif

25. Image Accessed 01/04/2011 Original gene sequence on the chromosome = ABC DEF Deletion – AB DEF (part “C” deleted) Duplication – ABBC DEF (part “B” doubled) Inversion – AED CBF (sections switched) Translocation – ABC JKL (sections added from a different xsome) Animation Chromosomal Mutations Cont.

26. Image Accessed 01/04/2011 Knowledge Check "Human male chromosomes showing mutation on chromosome 7." World of Genetics. Gale, 2010. Science in Context. Web. 20 Dec. 2013. Photomicrograph of human chromosomes showing male mutation on chromosome 7, which determines cystic fibrosis. Does that mean that every cell has this mutation? Turn and talk to your neighbor.

27. Image Accessed 01/04/2011 Mutagen Mutations can occur naturally, typically enzymes within the cell “proof read” the DNA to correct the mistakes. Unfortunately, if the mutation occurs in a sperm, egg, or early in gestation, then the mutation will be part of the offspring’s DNA. An agent that causes mutations is called a mutagen. –Chemicals –Radiation “Poisoned Waters”Poisoned Waters