Mutations Worksheet



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?

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