15.

Cystic Fibrosis (CF) is a recessive inherited disorder that is associated with thick,
sticky mucus in the lungs and trouble breathing, salty sweat, infertility in certain
individuals, and a shortened life expectancy. This is the result of a mutation called
__________.
a. deletion
b. insertion
c. nonsense mutation
d. substitution

Answer Key on Page 19

How did you find the pre-test? What was your score? If you got 15 items
correctly, you may skip the module. But if your score is 14 and below, you must
proceed with the module.

Lesson

5 Mutation

What’s In

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.

Let’s explore the different types of mutation in the next activity. Are you ready?

4 CO_Q3_Science 10_ Module 5

 What’s New
Genomazing Challenge!

What you need:

 work sheet
 sheet of paper
 ball pen
What you have to do:
1. Study Figure 1 (amino acid chart) and the DNA sequences carefully, and read the
captions very well. Get a sheet of paper for your answers and observation. Do not
copy the questions, just write down your answer or observations. 2. Study the
following DNA strand:
Transcribe and Translate the original DNA strand:
DNA: ATGCCCGGCGAG
mRNA: _______________
tRNA: _______________

Figure 1. Amino Acid Chart

Illustrated by Jayson A. De Guzman

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

5 CO_Q3_Science 10_ Module 5

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: __________________________________

What Is It

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.

6 CO_Q3_Science 10_ Module 5

 There are different types of mutations that you have explored in the previous
activity. These are POINT mutation and FRAMESHIFT mutation. First, you made a
POINT mutation in the original DNA. The second mutation you explored is a
FRAMESHIFT mutation. Lastly, the third mutation you determined is a special type
of point mutation called a SILENT mutation.

Let’s take a look on the definitions and descriptions about the types of
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.

Example:

Original DNA Code for Amino Acid Sequence

DNA: AGG AAG AAC ACG CAG AGC ATG

mRNA: UCC UUC UUG UGC GUC UCG UAC
tRNA: AGG AAG AAC ACG CAG AGC AUG
amino acid: Ser - Phe- Leu- Cys- Val - Ser- Tyr

Replacement of a single nucleotide

Mutated DNA CODE
DNA: AGG AAG AAC ACT CAG AGC ATG
mRNA: UCC UUC UUG UGA GUC UCG UAC
tRNA: AGG AAG AAC ACG CAG AGC AUG
amino acid: Ser- Phe- Leu- STOP

incorrect sequence causes shortening of 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)

7 CO_Q3_Science 10_ Module 5

 Original DNA Code for Amino Acids

DNA: GCA ATG CAT CAT CGT CGC CAA

mRNA: CGU UAC GUA GUA GCA GCG GUU
tRNA: GCA ATG CAU CAU CGU CGC CAA
amino acid: ARG- TYR VAL- VAL - ALA- ALA- VAL

Mutated DNA CODE

Replacement of a single nucleotide

DNA: GCA ATG CAT CCT CGT CGC CAA

mRNA: CGU UAC GUA GGA GCA GCG GUU
tRNA: GCA ATG CAU CCU CGU CGC CAA
amino acid: ARG TYR VAL GLY ALA ALA VAL

This is an incorrect amino acid which may produce a

malfunctioning protein

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.

Figure 2. Silent Mutation

Illustrated by Jayson A. De Guzman

8 CO_Q3_Science 10_ Module 5

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

No mutation Point mutations

Silent Nonsense Missense
Conservative Non-
conservative
DNA level TTC TTT ATC TCC TGC
mRNA AAG AAA UAG AGG ACG
level
tRNA level UUC UUU AUC UCC UGC
Protein LYSINE LYSINE STOP ARGININE Threonine
level

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.

Figure 3. Deletion
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.

Figure 4. Duplication

9 CO_Q3_Science 10_ Module 5

3. Inversion - when a segment of a chromosome is reversed end to end.

Figure 5: Inversion
4. Insertion- the addition of one or more nucleotide base pairs into a DNA sequence.

Figure 6: Insertion
5. Translocation- segments of two chromosomes are exchanged.

Figure 7: Transloaction

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. 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.

Figure 8. DNA sequence of Sickle Cell Anemia

Illustrated by Jayson A. De Guzman

10 CO_Q3_Science 10_ Module 5

 Figure 9. Sickle cells
Illustrated by Jayson A. De Guzman

Likewise, 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. This is caused by the deletion of the tyrosinase gene.
Another is the 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. 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.
Furthermore, is the 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 (see Figure 11).

Figure 10. Karyotype of Trisomy 21 Figure 11. Down syndrome

Illustrated by Jayson A. De Guzman Illustrated by Jayson A. De Guzman

11 CO_Q3_Science 10_ Module 5