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Lecture 5

BIO1140 Lecture 5: Mutations

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Caroline Petit- Turcotte

5.6 Mutations Types of Mutations POINT MUTATION CHROMOSOMAL Frameshift Missense Inactivation Deletion Insertion Substitution Translocation Inversion • SILENT: no effect on the operation of the cell. Usually occur in the introns of DNA, and because they are cut out during post-transcription, the mutations never show - no phenotypic change • FRAMESHIFT: Can be caused by insertion or deletion mutations, because it results in a shift of the reading frame (unless it’s a deletion or insertion of 3 nucleotides then it’ll cause a change in protein conformation) Deletion*: when one or more nucleotides are removed from the DNA sequence, causing the protein structure to be drastically altered and will result in a defective protein Insertion*: DNA sequence is read in triplets of nucleotides, inserting an extra one will cause different amino acids to be translated • MISSENSE: when a change in the base sequence of DNA alters a codon, leading to a different amino acid being placed in the protein sequence. Sickle cell anemia occurs as a result Substitution: replacement of one base i
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