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Mutations

DNA mutations can significantly affect gene function, leading to various health conditions. A mutation is any change in the nucleotide sequence of DNA, with point mutations and frameshift mutations being common types. Sickle Cell Anemia, caused by a point mutation, results in misshaped red blood cells, while Tay-Sachs Disease, a frameshift mutation, leads to severe deterioration of abilities and early death. These mutations can occur in chromosomes, resulting in deletions, insertions, inversions, and translocations. Understanding these genetic changes is crucial for genetics and medicine.

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Mutations

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  1. Mutations

  2. DNA • Chromosome • Threadlike, gene carrying structure • Gene • A unit of hereditary information consisting of specific nucleotide sequence

  3. So Why Do We Care? • Genes tell our body to make specific proteins • What do proteins do in our body? • Carry oxygen in our blood • Muscle proteins enable us to move • Hair and fingernails are made up of proteins

  4. What Happens if something goes wrong? • Mutation • Any change in the nucleotide sequence • One little change can have a big effect

  5. Sickle Cell Anemia • Results from a point mutation • Point mutation • Change in a single base pair of DNA • This mutation causes sickle shaped red blood cells

  6. Sickle Cell vs Normal RBC

  7. Tay-Sachs Disease • Frameshift Mutation • When a single base is added or deleted • Deterioration of mental and physical abilities, results in death usually by age 4 • Result of mutation on chromosome 15 • Over 100 different mutations have been identified

  8. Chromosome Mutations • Deletions • Part of a chromosome gets left out • Insertions • Occurs when part of a chromatid breaks off and attaches to a sister chromatid • Inversions • Part of a chromosome breaks off and is reinserted backwards • Translocations • Part of one chromosome breaks off and is added to a different chromosome

  9. Pop Quiz! 1. Sickle Cell Anemia results from what kind of mutation? 2. What are the 3 steps of replication? 3. How do the 4 bases pair up? And what do we call this? 4. The backbone of DNA is made of what 2 components? 5. Was Watson and Crick’s actions surrounding Photo 51 ethical? Why or why not?

  10. Answers • Point Mutation • First: Parent DNA strand is unzipped, Second: Parent strand is used as a template for free nucleotides to be added to create complementary strand, Third: Free nucleotides complementary bonded together • A & T, C & G. This is called complementary base pairing.

  11. Answers (contd.) 4. Sugar and Phosphate *Bonus* Can you name another type of sugar, not found in the backbone of DNA? (hint: -ose) 5. Your opinion. Make sure your name is on the paper!! Turn it into me before you leave!

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