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Types of Mutations

Types of Mutations. Point Mutation. Change in one base of the gene sequence. Original: The fat cat ate the wee rat. Mutation: The fat hat ate the wee rat. Point Mutation Example. Sickle Cell Disease an inherited blood disorder that affects red blood

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Types of Mutations

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  1. Types of Mutations

  2. Point Mutation • Change in one base of the gene sequence. • Original: The fat cat ate the wee rat. • Mutation: The fat hat ate the wee rat.

  3. Point Mutation Example • Sickle Cell Disease • an inherited blood disorder that affects red blood • red blood cells can become sickle-shaped (crescent shaped) • When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. • Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease.

  4. Frame-shift mutation • one or more bases are inserted or deleted, the equivalent of adding or removing letters in a sentence • This type of mutation can make the DNA meaningless and often results in a shortened protein • Original: The fat cat ate the wee rat. • Mutation: The fat caatet hew eer at

  5. Frame-shift Mutation Example • Tay-Sachs Disease: • Fatal Genetic Lipid Storage Disorder • It affects an enzyme that catalyzes reaction to break down a certain kind of fatty acid in cells • Over time, this fatty acid will build up in nerve cells making them useless • Infants will become blind, deaf, and unable to swallow, then paralyzed and continue to deteriorate

  6. Deletions • Mutations that result in missing DNA • These can be small, such as the removal of just one "word," or longer deletions that affect a large number of genes on the chromosome. • Original: The fat cat ate the wee rat. • Mutation: The fat ate the wee rat.

  7. Insertion • Mutations that result in the addition of extra DNA • Original: The fat cat ate the wee rat. • Mutation: The fat cat xlw ate the wee rat.

  8. Inversion • an entire section of DNA is reversed • Original: The fat cat ate the wee rat. • Mutation: The fat tar eeweht eta tac.

  9. Effects of Mutations • No effect, if mutation codes for same amino acid, thus the same protein. Ex. ATA = UAU codes for amino acid tyrosine. If a mutation occurred and changed ATA to ATG, then ATG=UAC which also codes for tyrosine, so no change. • Positive effect, if mutation changes a protein and creates a different protein which is beneficial to the organism. • Negative effect, if mutation changes a protein and creates a different protein which is harmful to the organism.

  10. Discussion Questions • How do you think that these would affect the structure of a protein? • What consequences could these mistakes have? • Which do you think would have the greater effect: a point or a frame-shift mutation?

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