Molecular Diagnostics Chapter 8 EXAM 100% SOLVED

Molecular Diagnostics Chapter 8 EXAM 100% SOLVED point mutations - ANSWERgene mutations involving changes in one or a few nucleotides which will have a range of effects on protein sequence silent mutation - ANSWERA mutation that changes a single nucleotide, but does not change the amino acid created. conservative substitution - ANSWERNucleotide-pair substitution within a protein-coding region that leads to the replacement of an amino acid by one of similar chemical properties. Does not drastically affect protein function non-conservative substitution - ANSWERA change in the nucleotide sequence of DNA or RNA that leads to the replacement of one amino acid with a functionally different one, resulting in biochemical changes. nonsense substitution - ANSWERpremature stop codon frameshift mutation - ANSWERmutation that shifts the "reading" frame of the genetic message by inserting or deleting a nucleotide, results n phenotypic changes Does a mutation closer to the 5' end or 3' end of the coding region likely have more phenotypic changes? - ANSWERthe 5' end because the mutation happened early on in the sequence it will affect downstream amino acids A frameshift mutation leads to a stop codon within _____________ number of codons (large/small)? - ANSWERsmall, might have been a evolutionary adaptation to protect cells from making long nonfunctional proteins