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Gene Mutations Mutations: a mistake made in DNA Gene Mutation • Mutation that changes one gene • The Rat Hid And The Cat Sat And Got Fat • Substitute a letter in the sentence makes it • • • • meaningless The Pat Hid And The Cat Sat And Got Fat Adding or deleting a letter is worse because ALL words change The Rat Hix Dan Dth Eca Tsa Tan Dgo Tfa T The Rah Ida Ndt Hec Ats Atat Ndg Otf At Consequences of mutations • Amino acids make polypeptides which makes proteins • If one or more amino acids are wrong, then the organism can’t build the correct proteins Gene Mutations: 2 types • 1. Point mutations: mutation that occur at one point in the sequence • 2. Frameshift mutations: mutation that shifts how all the codons are read AGU CGG UGU AAG •AGU CGG UUG UAA G insertion Frameshift Mutation AGU CGG UGU AAG •AGU CGG GUA AG Deletion Frameshift Mutation AGU CGG UGU AAG •AGU CGG UUU AAG Substitution Point Mutation Chromosome Mutations • Structure or number of chromosomes change Duplication • Broken part can reattach to a sister chromatid • Normal chromosome • ABCDE FGH • Duplication of C and D • ABCDCDE FGH Deletion • Normal chromosome • ABCDE FGH • Deletion of C and D • ABE FGH Inversion • Broken part reattaches backwards • Normal chromosome • ABCDE FGH • Inversion of B and C • ACBDE FGH Translocation • Broken part attaches to ANOTHER chromosome • Normal chromosome • ABCDE FGH • CDM NOPQR When do mutations occur? • Mitosis • Meiosis Mitosis • Occurs only in the individual and does NOT get passed on to offspring • Example: cancer • Common reasons for mutations: UV radiation from the sun, tanning booths, xrays, tobacco, asbestos, benzene, chemical pesticides Meiosis • Mutations that are passed on to offspring • Examples: • Sickle cell disease: substitution • Tay-Sachs: frameshift • Down syndrome: chromosome mutation on number 21