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Notes: Mutations 13-3 GPS Standard • SB2d. Describe the relationship between changes in DNA and potential appearance of new traits including: – – – – Alteration during replication: Insertions Deletions Substitutions • Mutagenic factors that can alter DNA. – High energy radiation (x-rays and ultraviolet) – Chemical What are mutations? • Sometimes cells can make mistakes when copying their DNA. These mistakes are called mutations. • Mutations- are changes in the DNA sequence that affects the genetic information • Mutations that occur in sex cells can be inherited. Gene Mutations • Are mutations that affect one single gene or protein. • There are two types of gene mutations: point and frameshift Point Mutations • Point Mutations occur at one nucleoltide and only affect one amino acid. – Ex: Substitution- one nucleotide is substituted for another one – this may or may not change the resulting amino acid Frameshift Mutations • Frameshift mutations occur when a nucleotide is added or deleted. This affects every amino acid that comes after the mutation. – This will alter the protein so that it does not carry out its normal function Frameshift Mutations • Ribosomes read in 3 letter codons • THE FAT CAT ATE THE RAT • Look how the ribosome would read this sentence if the “H” in the first “the” was deleted. • TEF ATC ATA TET HER AT Chromosomal Mutations • Chromosomal Mutations- Changes in the number or structure of chromosomes • These are much worse than single gene mutations (because it affects lots of genes) • Deletion – Occurs when part of a chromosome is missing or lost • Duplication – Occurs when part of the chromosome is repeated or doubled • Inversion – Occurs when the parts of the chromosome are reversed • Translocation – Occurs when two chromosomes exchange parts (one chromosome breaks off and attaches to another) Mutagens • Mutagens are chemical or physical agents in the environment that may cause mutations. – Examples: pesticides, tobacco smoke, environmental pollutants, x-rays, uv light. Effects of Mutations • Some or most have no effect- they are considered neutral • some have a negative effect – Can result in genetic disorders (like sickle cell) – Can result in cancer Effects of mutations • Some have a positive effect – Altered proteins may help organism in changing environments • Insects- may help them gain resistance to insecticides • Humans- may increase bone density • Plants- Polyploidy (extra sets of chromosomes makes the plants larger and stronger) Mutations are important to evolution • Mutations are the source of genetic variability • Mutations that occur in the gametes (sex cells) are really important – Are passed on to the next generation – Affect the gene that the mutation occurred in