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Mutations

Explore the different types of mutations, including point mutations and frame shift mutations, and understand their effects on the DNA code and resulting proteins. Learn about the impact of mutations on diseases like sickle cell disease and the factors that determine whether mutations are passed on to future generations. Discover how mutagens in the environment can cause DNA changes and disrupt protein synthesis.

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Mutations

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  1. Mutations

  2. Defined: one nucleotide is substituted for another Often repaired by spellchecker enzyme May lead to amino acid change See animation May not lead to any change (Silent Mutation) Ex: DNA “CCC” is mutated into “CCG” Same amino acid is created (glycine) Gene: Point Mutations T A C A G T G G T C A A A DNA U G U C A C A C A G U U U mRNA cysteine glutamine histidine glutamine phenylalanine Amino acids

  3. Point Mutation and Sickle Cell Disease • Hemoglobin (protein) is made from 574 amino acids • Sickle cell disease is caused because of 1 wrong amino acid

  4. Gene: Frame Shift Mutation C A C A G T T G T C A A A DNA • Defined: insertion/deletion of a nucleotide • Entire sequence of DNA/RNA after the mutation is shifted (see animation) • Much more serious to the final protein G U G U C A A C A G U U U mRNA cysteine glutamine glutamine phenylalanine Amino acids histidine serine leucine

  5. Gene: Frame Shift Mutation C A C A G T G G T C A A A DNA U G U C A C C A G U U U G mRNA histidine glutamine phenylalanine cysteine Amino acids glutamine proline valine

  6. Impact on Offspring • Somatic cell mutations • Affect only the individual • Not passed on to future generations • Ex: Muscle cell mutation • Germ cell mutations • Germ cells = the diploid cells that undergo meiosis to make sperm & egg • May be passed to future generations If the mutated sperm above were to fertilize this egg…

  7. Mutation Causes • Mutagen: agents in the environment that can change DNA • Speed up replication process • Break apart nucleotides • Ex: UV from sunlight breaks hydrogen bond between thymine (T) and adenine (A)

  8. review • How are proteins affected if the DNA code is mutated? Example: ATTCGAGG is mutated to ATTCGTGG • What is the difference between a point mutation and frame shift mutations? • When are mutations passed on to future generations? • What is a mutagen and how do they cause problems?

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