Genetic Mutations

What mistakes can occur when DNA is replicated?

Why?
The genes encoded in your DNA result in the production of proteins that perform specific functions within your
cells. Various environmental factors and spontaneous events can lead to changes in genes. These changes,
called mutations, can lead to alterations in the structure and activity of the proteins your cells use in their daily
activities. In other words, changes to your genotype can result in changes to your phenotype. We all have
mutations in most of our body cells—yet we are, for the most part, normal and functional human beings. How can
that be?

1. How many nucleotides are present in the “normal” DNA sequence in Model 1?
4
2. How many codons are contained in the mRNA that is produced by the “normal” DNA in Model 1?
7
3. How many amino acids will be in the polypeptide produced by the normal DNA/mRNA sequence and what is
the sequence?
7
4. Consider DNA sequence 2 in Model 1. The mutation in that sequence is a substitution mutation.
a.Compare sequence 2 with sequence 1 and describe the mutation that has occurred.
ACC instead of AGC

b.What is the effect of this substitution mutation on the amino acid sequence?
It changes from Trp to Ser

5. Consider DNA sequence 3 in Model 1. The mutation in that sequence is an insertion mutation.
a.Compare sequence 3 with sequence 1 and describe the mutation that has occurred.
The first two are the same and all the rest are different
b.What is the effect of the insertion mutation on the amino acid sequence as compared to the “normal” amino
acid sequence? It changed all of the amino acids after His

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6. Consider DNA sequence 4 in Model 1. The mutation in that sequence is a deletion mutation.
a.Compare sequence 4 with sequence 1 and describe the mutation that has occurred.
Amino acids after Gln changed and the stop amino acid is gone
b.What is the effect of the deletion mutation on the amino acid sequence as it is compared to the “normal”
amino acid sequence?
The mRNA will be read until the whole strand is finished because there is no STOP amino acid
7. In your group, use grammatically correct sentences to define each of the following mutations.
Substitution mutation— a mutation that exchanges one base for another
Insertion mutation— a change in the nucleotide sequence of a gene or a chromosome.
Deletion mutation— a mutation in which a part of a chromosome or a sequence of DNA is lost during DNA
replication.
8. Considering your knowledge of codons and how they code for an amino acid, would all substitution mutations
lead to a change in the amino acid sequence? Explain your reasoning.
No, because some codons make the same amino acid.
9. Would all insertion or deletion mutations lead to a change in the amino acid sequence? Explain your
reasoning.
Yes, because this would alter the genetic information in the mRNA resulting in the production of a different
amino acid
10. What could potentially cause more damage (or a greater benefit) to an organism, a substitution mutation
or an insertion mutation? Explain your reasoning.
Insertion mutation could result in more damage because the substitute mutation could be silent.
11. What could potentially cause more damage (or a greater benefit) to an organism, a deletion mutation at
the beginning of a DNA sequence or at the end of a DNA sequence?
A deletion at the beginning because there will be a great chance that the whole DNA codons will be altered

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12. For each of the mutations A – D in Model 2, circle the substitution that occurred by comparing the mutated
DNA with the original DNA.
13. As a group, describe the range of changes in the amino acid sequence that can result from this type of
mutation.
This mutation is more severe in D, C and A, because in B it was silent.

14. Gene mutations can be positive, negative or neutral. Suppose that the normal gene in Model 2 produced a
polypeptide that was necessary for cellular respiration.
a.Choose a mutation from those in Model 2 that would be neutral for a cell. Explain your reasoning.
Mutation B is neutral, because the mutation is silent and the amino acid sequence is not changed.
b.Choose a mutation from those in Model 2 that might be positive for a cell. Explain your reasoning.
Mutation A might be positive or maybe negative, it might be natural selection choosing a certain gene that
may help the organism to adapt through mutation
c. Choose a mutation from those in Model 2 that might be negative for a cell. Explain your reasoning.
Mutation D is negative, because it deactivates the mRNA and there is no production of amino acids

Read This!
Mutations are the source of all new alleles in nature. Variations in alleles lead to variations in organisms within a
population. Positive mutations lead to the organism having a better chance of survival, which means the mutation
may be passed on to the offspring. Negative mutations may lead to an early death— probably before the
organism can produce offspring. Therefore, changes in alleles from one generation to another form the basis of
evolution.

15. Which types of mutations, positive, negative or neutral, are most likely to be seen in offspring several
generations after the mutation occurred? Explain your reasoning.
Positive or neutral, because they will not differ and create new genes from there parents
16. Consider the following scenarios. State whether the mutation is likely to be passed on to the offspring of
Thisthe
studyorganism. Explainbyyour
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 a.A single bacteria cell contains a positive mutation in its DNA.
Maybe, The mutation may be copied during cellular division
b.A skin cell on a cat contains a positive mutation in its DNA.
No, skin mutations can’t be passed on
c. A sperm cell in a whale contains a positive mutation in its DNA.
Yes, sperm mutation can be passed on

17. All cells have DNA errors due to the mistakes that occur each time DNA is replicated prior to cell division.
There are proofreading enzymes in cells that correct many of these mistakes, but on average, 3 – 5 errors are
found in DNA after each replication.
a.If each cell has multiple mutations, why do most of us have normally-functioning tissues and organs?
The cell will not be affected because the mutations are in the introns unless some unexpected mutation
occurs
b.Why is only a tiny subset of these mutations passed on to our children?

Because mutations has to occur in the gametes in order to be inherited

Extension Questions
18. Insertion and deletion mutations are said to cause shifts in the “reading frame” (the sets of three
nucleotides) of the mRNA. Substitution mutations do not cause these so-called frameshifts. Explain why
insertions and deletions are called frameshift mutations, using the terms reading frame, codons, and amino
acids in your answer.
The start codon sets up the reading frame, if the codon gets altered or deleted the whole codon sequence will
change resulting in the production of new and different amino acids

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