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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?
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