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SBI4U-Chapter 8.pdf - Recap Mutations • Mutations • Silent...

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Recap
Mutations
MutationsSilent MutationsMissense MutationNonsense MutationSubstitutionDeletionInsertionFrameshift MutationPoint MutationTranslocationTransposable ElementsInversionSpontaneous MutationMutagenic AgentsInduced Mutations
Mutationsmutations changes in the DNA sequencethat are inheritedMutations are errors made in the DNAsequence that are inherited. These errorsmay have deleterious side effects, noeffect, or positive side effects for anorganismEx: Mutations in the cystic fibrosistransmembrane regulator (CFTR) gene thatresult in cystic fibrosis can be passed onfrom parent to child—a negative side effect
Silent Mutationssilent mutation a mutation that does not result in a change in the aminoacid coded for and, therefore, does not cause any phenotypic changeGenetic code has a redundant natureEX: UUC, UUU -> phenylalanineIs an example of a point mutation
Missense Mutationmissense mutation a mutation that results in the single substitution of one amino acid in the resulting polypeptidemissense mutation arises when a change in the base sequence of DNA alters a codon, leading to a different aminoacid being placed in the protein sequenceEx.Sickle Cell Anemia
NonsenseMutationnonsense mutation amutation that converts acodon for an amino acid intoa termination codonPremature Stop CodonOften lethal to the cellIt forms a truncated protein
Substitutionsubstitution the replacement of one base in aDNA sequence by another baseMissense and nonsense mutationarise fromsubstitution
DeletionAUGGGA UUC AAC GGA AUAmethionine–glycine–phenylalanine–asparagine–glycine–isoleucineAUG GAU UCA ACG GAAUAmethionine–asparagine– leucine–threonine–glutamine.Caused a shift in the reading frameIs an example of a point mutationdeletion the elimination of a basepair or group of base pairs from aDNA sequencewhich occurs when one or morenucleotides are removed from theDNA sequenceIt can alter protein structure, andhave disastrous effectsCan cause shifts in the readingframe
Frameshift MutationCan be caused by Insertion or Deletiona mutation that causes the reading frame ofcodons to change, usually resulting in differentamino acids being incorporated into thepolypeptide
Insertioninsertion the placement of an extra nucleotide in a DNAsequenceCan cause a shift in the reading frameIs an example of a point mutation
Point Mutation
Translocationtch?v=vbGw4VanNjktranslocation the transfer of afragmentof DNAfrom one site in the genome toanother location; between nonhomologous chromosomesTranslocation can cause a fusionprotein!Some types of leukemia are associatedwith translocations and their respectivefusion proteins.

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Term
Spring
Professor
N/A
Tags
DNA, Mutation, Gel Electrophoresis Lab

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