Mutations
Science 10
The DNA is used to complete the process
of protein synthesis. Protein synthesis has
two stages which are called transcription
and translation. During protein synthesis
at the ribosome, messenger RNA
sequences are read and translated into
amino acids. These amino acids will form
proteins.
These amino acids are specified by
codons carried by mRNA. If the mRNA
is copied incorrectly during
transcription stage, there will be an
anomaly in the genes. This is called
mutation.
A mutation is a change that occurs in our
DNA sequence, either due to mistakes
when the DNA is copied or as the result
of environmental factors such as UV light
and cigarette smoke. Mutation occurs
during DNA replication, thus transcription
into mRNA is anomalous.
Study the following DNA strand:
Transcribe and Translate the original DNA
strand:
DNA: A T G C C C G G C G A G
mRNA: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _
tRNA: _ _ _ _ _ _ _ _ _ _ _ _ _ _ _
2.1. Refer to your answer in item number
2. When protein synthesis is completed,
write the sequence of amino acid. Refer
to Figure 1: Amino acid chart
2.2. Edit the DNA strand in #2 by changing the second
and third bases of ATG to A. What will be the new amino
acid chain created by the modified DNA? Refer to Figure
1: Amino acid chart.
DNA: __________________________________
mRNA: __________________________________
tRNA: __________________________________
Amino acid:
2.3. Return the DNA to its original state (A T G C C C G G C
G A G). This time, write an additional A after ATG, the
DNA strand will be ______________________. What will
be the new amino acid chain created by the DNA? Refer
to Figure 1: Amino acid chart.
DNA: __________________________________
mRNA: __________________________________
tRNA: __________________________________
Amino acid:
2.4. Return the DNA to its original state (A T G
C C C G G C G A G). Write CCA instead of CCC.
What will be the new peptide created by the
DNA? Refer to Figure 1: Amino acid chart.
DNA:
__________________________________
mRNA:
__________________________________
tRNA:
__________________________________
Mutations are changes to a DNA
sequence. Just like the
information in DNA as a group of
sentences, mutations are
mistakes in spelling of the words
that form those sentences.
Mutagens are agents that cause
alteration in the DNA and can lead to
permanent mutations in the DNA
sequence depending on the ability of an
organism to repair the damage. Examples
of mutagens are radioactive substances,
x-rays, ultraviolet radiation, and certain
chemicals or drugs.
There are different types of
mutations that you have
explored in the previous activity.
These are POINT mutation and
FRAMESHIFT mutation.
First gene mutation is the
point mutation. It is the type
mutation in DNA or RNA
wherein one single nucleotide
base is deleted, added or
altered.
This can lead to substitution
mutation. There are three types
of substitution mutation. These
are nonsense, missense and silent
mutation.
1) Nonsense mutation results in the
formation of a stop codon due to the
substitution of one nitrogenous base.
Remember, stop codons are special
nitrogenous bases that stop the
translation stage in protein synthesis.
These are ATC, ATT, or ACT in
DNA, and UAG, UAA, or UGA
in mRNA. They are usually
located at the end of
messenger RNA nucleotide
base sequence
However, when a substitution
mutation causes it to appear
in another place, it will
suddenly stop the translation
process to amino acid and will
fail to produce the correct
protein.
2) When one nitrogenous
base of the DNA is replaced
and the result is an altered
codon but does not form a
stop codon, it is classified
as missense mutation.
This will create a different
amino acid in protein
synthesis
Example:
DNA: CAT to mRNA : GUA to tRNA CAU
(Valine)
CAT is changed into
CCT to mRNA: GGA to tRNA: CCU (Glycine)
Missense mutation can be
classified into conservative
and non-conservative.
Conservative mutation: When
the new amino acid formed has
the same properties of the one
that was supposed to be
produced.
Non-conservative: When the
new amino acid formed has
different properties of the
one that was supposed to be
produced.
3) Silent mutation happens
when a nitrogenous base is
altered but the same amino
acid is produced. Remember,
many codons can code for the
same amino acid.
Example: GGC and GGU can both
code for glycine. If C is changed to
an U, the same amino acid will be
produced and therefore, the
amino acid will not be changed.
Table 1 shows the different kinds of
substitution point mutations. It shows
the DNA template, messenger RNA
codon, anticodon, and the amino acid
produced. Take note: Amino Acids are
based on mRNA
Table 1: Types of Point Mutations
Second gene mutation is the frameshift
mutation. Frameshift mutation happens
when the normal sequence of codons is
disorganized by the insertion or deletion
of one or more nitrogenous bases, given
that the number of nitrogenous bases
added or deleted is not a multiple of
three.
For example, if just one
nucleotide is deleted, then
all of the codons after the
mutation will have an
altered reading frame.
This can lead to the possible
change of many amino acids
that may affect the amino acid
chain produced incorporation
of many changes in amino
acids into the protein.
In contrary, when three
nitrogenous bases are deleted
or inserted, there will be no
shift in the codon reading
frame but, there will be either
an extra or a missing amino
acid in the protein.
Therefore, frameshift mutations
lead to the abnormal protein
with an improper amino acid
sequence that can be either
longer or shorter than the
normal protein.
The following are kinds of chromosomal
mutations:
1. Deletion- happens when a base is
deleted from the nitrogen base sequence.
2. Duplication – occurs when a part of a
chromosome is copied (duplicated) too
many times. This type of chromosomal
change results in extra copies of genetic
material from the duplicated segment.
3. Inversion - when a segment
of a chromosome is reversed
end to end.
4. Insertion- the addition of
one or more nucleotide base
pairs into a DNA sequence.
5. Translocation- segments of
two chromosomes are
exchanged.
What happens when a
person has mutated genes?
This can lead to inherited
disorders. One of the most
common disorders is the
sickle cell anemia.
This type of anemia is caused by a
recessive disorder through a
single substitution mutation in
the gene that is responsible for
hemoglobin production.
"Recessive" means that 2 nonworking
copies of the gene are necessary to have
the trait or disorder. One is inherited from
the mother, and one from the father. If
you have only one recessive gene, you are
a "carrier" for the trait or disease, but you
do not have any health problems from
"carrying" one copy of the gene.
This type of anemia is caused by a
recessive disorder through a
single substitution mutation in
the gene that is responsible for
hemoglobin production.
Hemoglobin is known for
carrying oxygen in the blood.
In a normal gene, glutamic
acid is formed in the chain.
But when the amino acid
valine substitutes glutamic
acid, this leads to the
production of sickle-shaped
blood cells. These cells cannot
properly carry oxygen
Sickle cell anemia’s symptoms are
anemia, pain crises and frequent
infections. It can be managed with
prescription drugs, folic acid, bone
marrow transplants, and blood
transfusions.
ALBINISM
deletion mutation can lead to
albinism. Albinism (specifically type I
oculocutaneous albinism) is an
autosomal recessive disorder in which
the formation of melanin is reduced
or absent in skin, hair, and eyes due to
the lack of activity of tyrosinase
Melanin is a natural pigment that
gives color to your skin, hair, and
eyes. It also protects your skin
and eyes from the sun.
. This is caused by the deletion
of the tyrosinase gene.
Cystic Fibrosis (CF)
It is a recessive inherited
disorder. Although there are many
different mutations that can cause
cystic fibrosis, deletion mutation is
the most common cause.
Cystic Fibrosis (CF)
It affects the cystic fibrosis
transmembrane conductance
regulator (CFTR) gene that leads
to the deletion of the amino acid
phenylalanine. This causes an
incorrect protein.
Down syndrome or Trisomy 21
It is related with slight
retardation of cognitive ability.
It is also characterized with
impairment of physical
growth, body and facial
features.
Down syndrome is caused by a
translocation during meiosis that
transfers most of chromosome 21
(showing three chromosomes)
onto chromosome 14
Image sources
DNA sequence of sickle cell anemia. Image source:
MEDICAL HOME PORTAL, Christopher Mckinney, MD and Julie
Kanter, MD, 2021. Accessed via https://
www.medicalhomeportal.org/diagnoses-and-conditions/sickle-
cell-disease
Sickle Cell. By The National Heart, Lung, and Blood
Institute (NHLBI) - http://www.nhlbi.nih.gov/health/health-
topics/topics/sca/, Public Domain,
https://commons.wikimedia.org/w/index.php?curid=19198765
Albinism. By Healthline, “Understanding Albanism”.
Kivi and Solan et. Al, 2023. https
://www.healthline.com/health/albinism
Cystic Fibrosis. By Medline Plus, “Cystic Fibrosis”.
Neil K. Kaneshiro et.al, 2022.
https://medlineplus.gov/ency/article/000107.htm
