Higher human biology Unit 1.4 5.0 / 5 based on 1 rating ? Human BiologymutationsScottish HighersSQA Created by: jennylock2Created on: 08-10-21 12:32 What is a gene mutation? A change in the sequence of bases (nucleotides) in a gene? 1 of 15 What are 3 types of substitution mutation? Missense, nonsense and splice-site 2 of 15 What happens in a missense mutation? One nucleotide is swapped for another so that one amino acid codon is changed for another amino acid codon. 3 of 15 What effect does a missense mutation have on the protein being made? One amino acid is changed so the protein may still be functional depending on the role of that amino acid in the final protein 4 of 15 What happens in a nonsense mutation? A codon for an amino acid is swapped for a stop codon. 5 of 15 What effect does a nonsense mutation have on the protein? A shorter protein is made which is not functional. 6 of 15 What is a splice-site mutation? A mutation results in codons that control splicing being changed, as a result introns may not be spliced out 7 of 15 What type of nucleotide changes cause a frameshift mutation? Insertion and deletion 8 of 15 What effect do frameshift mutations have on the protein coded for? Every amino acid after the mutation is altered which results in a protein that doesn’t work 9 of 15 What is a chromosome mutation? A change in the number or sequence of genes in a chromosome. 10 of 15 What are 4 types of chromosome mutation? Deletion, duplication, inversion and translocation 11 of 15 What happens in a deletion chromosome mutation? A section of genes is deleted from the chromosome resulting in a shorter chromosome 12 of 15 What happens in an inversion mutation? a section of the chromosome is reversed. 13 of 15 what happens in a translocation mutation? A section of genes from a non-homologous chromosome is added or inserted into the chromosome 14 of 15 what happens in a duplication mutation? A section from the homologous partner chromosome is added to the chromosome. 15 of 15
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