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Mutations Worksheet Name _________________________ Date_________ Period_______ There are several types of gene mutations, those that only involve one gene and therefore only one polypeptide. SUBSTITUTION (one base is substituted for another) If a mutation changes the amino acid, it’s called a MISSENSE mutation. If a mutation does not change the amino acid, it’s called a SILENT mutation. If a mutation changes the amino acid to a “stop,” it’s called a NONSENSE mutation. DELETION (a base is lost) INSERTION (an extra base is inserted) Deletion and insertion usually cause what’s called a FRAMESHIFT, meaning the reading “frame” changes, changing the amino acid sequence.). Use your the information above to complete the boxes below. Original DNA Sequence: T A C A C C T T G G C G A C G A C T mRNA Sequence: _________________________________________________ Amino Acid Sequence: _________________________________________________ Mutated DNA Sequence #1: T A C A T C T T G G C G A C G A C T mRNA Sequence: _________________________________________________ (Circle the mutation.) Amino Acid Sequence: _________________________________________________ What kind of mutation is this? Deletion, Insertion, or Substitution AND Frameshift, Missense, Silent or Nonsense (circle one from each set) Mutated DNA Sequence #2: T A C G A C C T T G G C G A C G A C T mRNA Sequence: _________________________________________________ (Circle the mutation.) Amino Acid Sequence: _________________________________________________ What kind of mutation is this? Deletion, Insertion, or Substitution AND Frameshift, Missense, Silent or Nonsense (circle one from each set) Mutated DNA Sequence #3: T A C A C C T T A G C G A C G A C T mRNA Sequence: _________________________________________________ (Circle the mutation.) Amino Acid Sequence: _________________________________________________ What kind of mutation is this? Deletion, Insertion, or Substitution AND Frameshift, Missense, Silent or Nonsense (circle one from each set) Mutated DNA Sequence #4: T A C A C C T T G G C G A C T A C T mRNA Sequence: _________________________________________________ (Circle the mutation.) Amino Acid Sequence: _________________________________________________ What kind of mutation is this? Deletion, Insertion, or Substitution AND Frameshift, Missense, Silent or Nonsense (circle one from each set) Mutated DNA Sequence #5: T A C A C C T T G G G A C G A C T mRNA Sequence: _________________________________________________ (Circle the mutation.) Amino Acid Sequence: _________________________________________________ What kind of mutation is this? Deletion, Insertion, or Substitution AND Frameshift, Missense, Silent or Nonsense (circle one from each set) Match the chromosome mutation with its description. ____1. Translocation ____2. Inversion ____3. Deletion ____4. Duplication A). A portion of the chromosome is missing. Known disorders in humans include WolfHirschhorn syndrome, which is caused by missing a portion of the short arm of chromosome 4; Cri du chat syndrome is due to a missing portion of the short arm of chromosome number 5. B). A portion of the chromosome is copied more than once, resulting in extra genetic material. Known human disorders include Charcot-Marie-Tooth disease type 1A which may be caused by a repeat of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. C). When a portion of one chromosome is transferred to another chromosome. Sometimes, parts of different chromosomes switch places (reciprocal exchange). D). A portion of the chromosome has broken off, turned upside down and reattached, therefore the genetic material is backward. Discuss why chromosome mutations are potentially more serious than gene mutations?