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Understanding Genetic Mutations: Point, Frame Shift, and Chromosome Changes

This article explores the various types of genetic mutations including point mutations, frame shift mutations, and chromosomal mutations such as translocations. It defines mechanisms like nucleotide substitutions and their impacts, from silent to significant alterations in amino acids. You'll learn about somatic and germ cell mutations, as well as the role of mutagens in inducing changes. Through practical examples, the article illustrates how mutations can affect protein synthesis and inheritance patterns, offering key insights into genetics and molecular biology.

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Understanding Genetic Mutations: Point, Frame Shift, and Chromosome Changes

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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. 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 structure/function of the final protein • mRNA sequence may have an early “stop codon” • mRNA sequence may have a late “stop codon” G U G U C A A C A G U U U mRNA cysteine glutamine glutamine phenylalanine Amino acids histidine serine leucine

  4. 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

  5. Chromosome Mutations • Translocation: Chromosome segments combine with nonhomologous chromosome • Many genes wind up on entirely different chromosomes • Gene cut apart • ½ on chr #5, ½ on chr #8

  6. This is still Down’s Syndrome

  7. 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

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

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

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