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Understanding Genetic Mutations: Causes, Effects, and Examples

Discover the world of genetic mutations, including types like gene mutations and chromosomal mutations, how they occur, their impact, and examples such as Normal Human Karyotype and Rust’s Disease. Learn about the different effects of point mutations and frameshift mutations and understand the significance of mutations in genetic variation. Explore where mutations happen, their implications on proteins, and how some mutations are inheritable while others are not.

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Understanding Genetic Mutations: Causes, Effects, and Examples

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  1. Genetic Mutations

  2. Genetic mutations • Not all are harmful • Most cause little/no change • Have to be reproductive cell mutations to repeat in future generations • Somatic mutations not inheritable

  3. What are mutations? • Changes in the genetic sequence that affect genetic information • Two types • Gene mutations • Chromosomal mutations Normal Human Karyotype Rust’s Disease

  4. Examples of mutations • Changes in the DNA sequence that affect genetic information • Normal:Thesunwashotbuttheoldmandidnotgethishat.The sun was hot but the old man did not get his hat. • Translation changed in ribosome:t hes unw ash otb utt heo ldm and idn otg ish at. • Missing letter or base:the sun wsh otb utt heo ldm and idn otg ish at.

  5. How do mutations happen? • Environmental agents • UV light, chemicals, radiation • Meiosis • more/less chromosomes • Mistakes in DNA replication

  6. What happens when there is a mutation? • The mistake can cause the cell to make an incorrect protein • see a different phenotype than normal ex. White Buffalo • If the mutation occurs in a single type of cell, • it will affect only the cell that carries it ex. Skin cells • If the mutation occurs in a sex cell, • it can be passed to the offspring and affect their phenotype • Mutations can introduce genetic variation • the change can be helpful, harmful or neither

  7. Where do they happen? • Gene Mutations • replication • transcription • translation • Chromosome Structural Changes • Mitosis • Meiosis

  8. Gene Mutations • Point Mutations • involve one nucleotide • single point in a DNA sequence • Substitute one base for another

  9. Gene Mutations • Frameshift • insertion or deletion of a base • shifts entire sequence for translation • different group of amino acids • changes the protein function

  10. Review Gene mutations • Point mutations – mistakes with 1 nucleotide • Substitution of the wrong nucleotide (nitrogen base) in place of correct one • Frameshift mutations – occur when a nucleotide is either inserted or deleted, altering the trios of nitrogen bases • More severe than point mutations because it effects all of the amino acids in the protein

  11. Deletion- loss of all or part of chromosome - missing genes may prove fatal Duplication- segment repeated - usually harmless Chromosome Structural Changes

  12. Inversion- connection broken & sequence reversed- may be fatal Translocation- non-homologous chromosomes sharing or exchanging information Chromosome Structural Changes

  13. Review Chromosomal mutations • Change in the number or structure of the chromosomes • Deletion • Duplication • Inversion • translocation

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