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Topic: Genetic Changes

Topic: Genetic Changes. Aim: How can genetic information be altered?. 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?. What is a mutation?.

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Topic: Genetic Changes

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  1. Topic: Genetic Changes Aim: 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. What is a mutation? • A genetic change/alteration that occurs on or within DNA. • Results in a different transcription and translation message ultimately a different protein • Consequences: the protein may be the wrong protein that the cell needs • Passed on through sex cells ONLY, not somatic cells • Mutations can be harmful when expressed, but can be hidden

  4. 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

  5. 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?

  6. Types of Mutations A- Chromosomal Mutations: changes that occur on sections of the chromosome or the complete chromosome structure. Ex: Inversion and Translocation B- Gene (Point) Mutations: changes that occur on individual base(s) of the nucleotides Ex: Substitution, Addition, Deletion, Point Inversions

  7. 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

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

  9. Gene Mutations- Substitution Substitution (point) mutation = when one base is replaced with another Results in transcription and translation of a different amino acid than expected. Sickle Cell Anemia  disease where substitution occurs on one base

  10. 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

  11. Results of sickle cell anemia

  12. Gene Mutation- Addition • Addition (point) mutation = 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

  13. Gene Mutations- Deletion • Deletion= nucleotides are deleted, which affects the coding of proteins that use this DNA sequence

  14. Results of Addition & Deletion Mutations Addition and Deletion mutations cause the DNA sequence to be read incorrectly Frameshift Mutation

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

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

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

  18. 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!

  19. 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!

  20. Name the mutation • 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!

  21. 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!

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