BSC 315 Study Guide - Midterm Guide: Exon Shuffling, Weaning, Wild Type
15 Apr 2017
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Document Summary
Point mutations are small changes in 1 or a few base pairs: substitutions: one base replaces another. Transition: purine changes to purine and pyrimidine to pyrimidine. Transversion: purine to pyrimidine, and pyrimidine to purine: insertions and deletions: one or a few bases are inserted or deleted. Missense mutation: 1 base change in a protein coding region 1 amino acid change. Nonsense mutation: 1 base change stop codon, prematurely terminating the protein. Silent mutations: cause no change in protein sequence: alternative wildtype allele. Frameshift mutation: translation reading frame problem: result: inappropriate reading frame downstream from deletion multiple missense substitutions, all frameshifts eventually introduce a nonsense codon, often after one or more missense codons. Mutations in non-coding regions may affect expression. Promoter mutations: if the change prevents rna polymerase from recognizing the promoter, transcription will not occur = no protein = severe mutation. Some mutations in the 5"utr may affect translation.
