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Genetic Mutations. 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. What are mutations?. Changes in the genetic sequence that affect genetic information Two types
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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
What are mutations? • Changes in the genetic sequence that affect genetic information • Two types • Gene mutations • Chromosomal mutations Normal Human Karyotype Rust’s Disease
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.
How do mutations happen? • Environmental agents • UV light, chemicals, radiation • Meiosis • more/less chromosomes • Mistakes in DNA replication
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
Where do they happen? • Gene Mutations • replication • transcription • translation • Chromosome Structural Changes • Mitosis • Meiosis
Gene Mutations • Point Mutations • involve one nucleotide • single point in a DNA sequence • Substitute one base for another
Gene Mutations • Frameshift • insertion or deletion of a base • shifts entire sequence for translation • different group of amino acids • changes the protein function
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
Deletion- loss of all or part of chromosome - missing genes may prove fatal Duplication- segment repeated - usually harmless Chromosome Structural Changes
Inversion- connection broken & sequence reversed- may be fatal Translocation- non-homologous chromosomes sharing or exchanging information Chromosome Structural Changes
Review Chromosomal mutations • Change in the number or structure of the chromosomes • Deletion • Duplication • Inversion • translocation