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Brainstorm……

Genetic mutations are changes in the DNA of an organism that can impact its development and health. Learn about different types of mutations, such as chromosomal and gene mutations, and their implications. Explore specific genetic disorders like Crouzon Syndrome, Harlequin-type ichthyosis, and Neurofibromatosis. Understand the consequences of mutations like Sickle Cell Anemia and the significance of frame shift mutations. Discover the complexities of genetic variability and its role in evolutionary processes.

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Brainstorm……

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  1. Brainstorm…… • Explain to the best of your ability what a “genetic mutation” means to you……. (use all of your prior knowledge of biology!)

  2. Crouzon Syndromegenetic disorder, skull bones fuse, 1-25,000 are affected

  3. More…..

  4. And more….

  5. Harlequin-type ichthyosis

  6. Symptoms: • Survival of about a month • Skin is hard with thick scales • Dehydration occurs quickly because the skin can not maintain water • Body temperature problems • Difficulty breathing due to skin restriction

  7. VERY GRAPHIC…

  8. Neurofibromatosis

  9. Neurofibromatosis • The previous picture is of a 32 year old male named Huang who lives in China • Aprox. 50 lb. tumor • Genetic disease that effects the development and growth of nerve tissue • Tumors may be removed but also very likely to return • Huang has currently had 2 surgeries to remove his tumors

  10. Tree Man – Human Papilloma Virus “Indonesia”

  11. Dede after some treatment…

  12. Elastic Baby!Ehlers-Danlos Syndrome (genetic disorder of connective tissue)

  13. Genetic Mutations A change in the DNA of an organism

  14. Mutations • 1. Germ cell mutation– mutations in gametes (doesn’t affect organism) • 2. Somatic mutations– mutation in an organisms body cells, i.e. can affect the organism ex: human skin cancer, leukemia • 3. Lethal mutations– cause death often before birth (some may form phenotypes that are beneficial  natural selection)

  15. Chromosomal Mutations(change in structure of chr. Or loss of entire chromosome • 1. deletion: loss of piece of chr. (chr breakage) • 2.inversion: chr. Segment breaks off and then reattaches in reverse orientation to the same chromosome • 3.translocation: chr. Piece breaks off and reattaches to another non homologous chr. • 4. nondisjunction: failure of chr. To separate from its homologue during meiosis (when this occurs 1 gamete lacks the chr. entirely

  16. CHROMOSOMAL DELETION • !

  17. CHROMOSOMAL INVERSION • *

  18. CHROMOSOMAL TRANSLOCATION

  19. NONDISJUNCTION • *

  20. Gene Mutations • May involve large segments of DNA or a single nucleotide within a codon! • point mutation: substitution, addition, or removal of a single nucleotide

  21. Point mutation (substitution) One nucleotide in a codon is replaced with a different nucleotide  resulting in a new codon

  22. Sickle Cell Anemia(Point mutation) • Substitutes adenine for thymine in a single DNA codon • Occurs in 1 in 500 African American in U.S • Heterozygous  generally healthy

  23. Symptoms of Sickle Cell Anemia • *

  24. INSERTION & DELETION • Mutations tend to be more serious • Remaining codons after are all incorrectly grouped resulting in FRAME SHIFT MUTATION!

  25. Frameshift Mutation

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