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Mutations and Diseases (Guided notes) 1. A is a change in DNA Sometimes, just a single is changed. Sometimes whole chunks of DNA get altered. This can alter the of the gene and the trait. Mutations can be or be to an organism. Causes can be exposure to and Some diseases that are 2. Types of Mutations inherited: Point mutation: a single point in the sequence is For instance a Sickle cell disease G is changed to an A. Cystic Fibrosis Huntington's Disease Frameshift mutation- a point mutation that involves a or Dwarfism which results in a shift in the reading frame. Muscular Dystrophy Explain what you observe happening in the Chromosomal Mutations: a) Deletion: b) Duplication: c) Inversion: 3. What happens when your DNA changes? This can cause a disease, which can then be passed to Genetic diseases are not contagious. but, they can be 4. Alexandria's Story What disease did Alex have? Attacks of terrible pain are called a Alex was being monitored for blood clots that cause 5. What causes sickle cell disease? Hemoglobin is a protein that makes up A single letter in the DNA is changed, causing the cells to 6. A change in DNA changes the Describe or sketch what this causes blood cells to look like: 7. Sickled blood cells get stuck in the This leads to - where your body tissues aren't getting enough oxygen 8. What is it like to live with sickle cell disease? (WATCH THE VIDEO ON YOUTUBE: Sickle Cell Anemia: A Patient's Journey https://www.youtube.com/watch?time_continue=12&v=2CsgXHdWqVs&feature=emb_logo) List a few of Alexandria's symptoms: 9. Sickle Cell Disease The change in the shape means that the blood cells don't move through vessels easily. More Symptoms Include: 10. Why don't Alex's parents have the disease? A person can be a for a gene but not have the disease. If their partner is also a carrier, a child could inherit of the mutated gene.

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