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BIOTECHNOLOGY
Guided Learning Activity Kit
MUTATION
Quarter - Week

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Science (STE) – Grade 8
Guided Learning Activity Kit
Mutation
Quarter 2- Week 8

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 MUTATION

Introduction

Cell is the basic structural unit of life. To function correctly,

each cell depends on thousands of proteins to do their jobs in the right
places at the right time. Still, from time to time, there is an error. That is, an
organism appears with a trait totally unlike any trait in their parent. Why?
Since, the egg was bigger than the sperm why didn’t it have a greater
influence on the new individual? If both sperm and egg carried hereditary
traits, why didn’t each offspring have all of both parents? To connect our
past lesson about transcription and translation, we are going to study the
idea what is mutation and how it occurs.

Learning Competency

Explain how mutations in DNA affects an individual.

Objectives

At the end of this activity, you are expected to;

1. define mutations;

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 2. describe the different types of mutation; and
3. identify examples of mutation.

Review

Are you familiar with the word mutation? Before we start our lesson, give
words and phrases associated with the word mutation.

MUTATION

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 Discussion

Mutation has been the source of many Hollywood movies, bit it’s really
a simple process of a mistake made in a DNA sequence as it’s being copied.
Mutation are heritable changes in genetic information. Mutations can also
occur when there is an error during DNA replication. In addition, mutation
can also be induced by things like radiation or carcinogens in a way that
increase the risk of cancers or birth defects. But it’s pretty simple; it’s
basically a n induced misspelling of the DNA sequence. That’s a mutation.
The result of a mutation could be harmful, beneficial, neutral or even silent.

Types of Mutation
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.
Mutations can be classified in various ways depending on the cause of the
mutation, its effect on the function of the gene product or the kind of
changes to the structure of the gene itself. The types of mutations include:

1.Substitution Mutation

Substitution occurs when a single

nitrogenous base is replaced

with a different nitrogenous base

Substitution mutations are situations where a single nucleotide is

changed into another. For example, an A: T base pair or even a T: A base
pair. Depending on the position of this change, it could have a variety of
effects Examples : Sickle Cell Anaemia is caused by substitution mutation,
where in codon (GAG mutates to --> GTG) and leads to (Glu --> Val) change.

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2. Nonsense Mutation

This shows a nonsense mutation, where the originally present CAG

codon is replaced by a TAG codon, which will result in the finalization of the
protein synthesis in this position.

Example: Blood clotting factor

Becker muscular dystrophy- is an X-linked recessive inherited
disorder characterized by slowly progressing muscle weakness of the legs
and pelvis. It is a type of dystrophinopathy. This is caused by mutations in
the dystrophin gene, which encodes the protein dystrophin.
Ehlersdanles Syndrome- is a disease that weakens the connective
tissues of your body. These are things like tendons and ligaments that hold
parts of your body together. EDS can make your joints loose and your skin
thin and easily bruised. It also can weaken blood vessels and organs

3. Insertion or Deletion Mutation

This happens when an extra base is inserted into a sequence.

Similarly, a deletion mutation happens when a base is removed from the
sequence. In any of these cases, the protein made by the gene may not
function properly.

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Example Huntington's disease and the fragile X syndrome are examples of
insertion mutation wherein trinucleotide repeats are inserted into the DNA
sequence leading to these diseases.
Huntington’s disease is a fatal genetic disorder that causes the
progressive breakdown of nerve cells in the brain. It deteriorates a person's
physical and mental abilities usually during their prime working years and
has no cure.
Fragile X syndrome is a genetic disorder characterized by mild-
tomoderate intellectual disability. Physical features may include a long and
narrow face, large ears, flexible fingers, and large testicles.

Example of Deletion Mutation

22q11. 2 Deletion Syndrome is caused by the deletion of some bases

of chromosome 22. This disease is characterized by cleft palate, heart
defects, autoimmune disorders, frequent infections, developmental delay,
learning problems. etc. DiGeorge syndrome, also known as 22q11. 2
deletion syndrome.

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4.Silent Mutations

The substitution doesn't change the amino acid that the codon codes for.

The image above shows a silent mutation since the change from codon
AAG to AAA still codes for the amino acid lysine

Example: Type B blood

5. Duplication

A duplication is consisted of a piece of DNA that is abnormally copied

one or more times. This type of mutation may alter the function of the
resulting protein.

Example:
Pallister Killian syndrome where part of the #12 chromosome is duplicated,
is a multi-system disorder that is characterized by extremely weak muscle
tone ( hypotonia ) in infancy and early childhood, intellectual disability ,
distinctive facial features, sparse hair, areas of unusual skin coloring
(pigmentation), and other birth defects.

6. frameshift mutation. Its occurs when the addition or loss of DNA bases
changes a gene’s reading frame. A reading frame consists of groups of 3
bases that each code for one amino acid. A frameshifts mutation shifts the
grouping of theses bases and changes the code for amino acids. The
resulting protein is usually nonfunctional. Insertions, deletions, and
duplications can all be frameshift mutations.

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 It occurs when the aforementioned "addition" or "deletion" mutations
result in a change to the gene's reading frame, which includes groups of
three bases that encode for an amino acid. The change in the reading frame
alters the grouping of the bases and subsequently changes the amino acids
that are encoded. Often, the encoded protein is non-functional.

Example:
Tay-Sachs Disease -is a genetic disorder that results in the
destruction of nerve cells in the brain and spinal cord. The most common
form is infantile Tay–Sachs disease which becomes apparent around three
to six months of age, with the baby losing the ability to turn over, sit, or
crawl. Cancers of many types
Crohn's Disease-
Cystic fibrosis has been associated with Frameshift Mutation.

6. Missense Mutation
The
substitution
changes
the
codon so that
it corresponds
to a different
amino
acid
than it should.

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 The figure shows CAT is replaced by CCT, which will result in the
replacement of the originally coded histidine amino acid by proline.

Example:
sickle –cell anemia a blood disease. People with sickle-cell anemia
have a missense mutation at a single point in the DNA. This missense
mutation calls for a different amino acid, and affects the overall shape of the
protein produced.

All mutations have the potential to be very damaging, but most are
benign. Mutations are an important part of evolution, allowing us to develop
adaptations and diversity.

Classification of Mutations

1.Gene mutations are the most common type of mutation. These

mutations arise when the code of a DNA molecule is changed in some way.
Since the code of the DNA is made of series of genes, such a change is a
change in a single gene. Gene mutations are also called point mutation.
Below are examples of gene mutations

Curly-Winged Fruit Fly Albino Deer

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 Blue eyes a
mutation in the
HERC2 gene acts
as a switch that
turns off the
OCA2 gene
resulting in no
brown pigment
and blue eyes as a
result.
Albinism lack the ability to make pigment called melanin

Other examples include

• Freckles- small brown spots on your skin
• Cleft chin- refers to a chin with a Y- shaped in the middle of the chin
• Dimples-are small indentions that can be seen on your skin
• Asian Flush (alcohol flush)- a condition which a person develop
flushes, a redness or blotches throughout their body or specific areas
after consuming alcohol
• Color blindness-happens when someone cannot distinguish between
certain colors
• Gluten intolerance/ Celiac disease is a chronic digestive disorder
resulting from an immune reaction to gliadin. A gluten protein found
in wheat, barley, rye and sometimes oats
• Lactose Tolerance-is a digestive order caused by the inability to digest
lactose the main carbohydrate in dairy products. It can cause, various
symptoms, including bloating, diarrhea and abdominal
• Cystic Fibrosis CF is associated with thick, sticky mucus in the lungs
and trouble breathing, salty sweat, infertility in certain individuals,
and a shortened life expectancy (about 42-50 years in developed
countries).
• Sickle-Cell Anemia is a recessive disorder caused by a single
substitution in the gene that creates hemoglobin, which carries
oxygen in the blood. Symptoms include anemia, obstruction of blood
vessels, and chest pain, and it is treated with folic acid, blood
transfusions, bone marrow transplants, and certain prescription
drugs

• Tay-Sachs disease is another recessive disorder caused by point

mutations. Tay-Sachs causes nerve cells to deteriorate over time,

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 which in turn results in the decline of physical and mental
functioning. Both child and adult-onset forms of the disease occur,
and children with the disease usually die before the age of four. There
is currently no treatment or cure.

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2.Chromosomal Mutations

Examples of Chromosomal Disorder

Some of the most common chromosomal abnormalities include:

• Down's syndrome or trisomy 21- is a genetic disorder caused by the

presence of all or part of a third copy of chromosome 21. It is usually
associated with physical growth delays, mild to moderate intellectual
disability, and characteristic facial features
• Edward’s syndrome or trisonomy 18-a baby with Edwards' syndrome
has 3 copies of chromosome number 18 instead of 2. This affects the
way the baby grows and develops. Having 3 copies of chromosome 18
usually happens by chance, because of a change in the sperm or egg
before a baby is conceived.
• Patau syndrome or trisomy 13- is a serious rare genetic disorder
caused by having an additional copy of chromosome 13 in some or all
of the body's cells. It's also called trisomy 13. Each cell normally
contains 23 pairs of chromosomes, which carry the genes you inherit
from your parents.
• Cri du chat syndrome or 5p minus syndrome (partial deletion of short
arm of chromosome 5)- is a chromosomal condition that results when
a piece of chromosome 5 is missing. Infants with this condition often
have a high-pitched cry that sounds like that of a cat.
• Wolf-Hirschhorn syndrome or deletion 4p syndrome- is caused by a
deletion of genetic material near the end of the short (p) arm of
chromosome 4. This chromosomal change is sometimes written as 4p-
• Klinefelter's syndrome- is a genetic condition in which a boy is born
with an extra X chromosome. Instead of the typical XY chromosomes
in men, they have XXY, so this condition is sometimes called XXY
syndrome.
• Turner syndrome-condition that affects only females, results when
one of the X chromosomes (sex chromosomes) is missing or partially
missing; with large necks.

Note that any chromosome mutation resulting in a significant loss of

genetic material (Deletion) is most likely to be lethal. While many

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chromosome mutations do not result in a loss of genetic material, the
position of a gene on a chromosome can affect its expression. Moving genes
from one location to another can affect their expression especially during
early developmental stages. In human’s significant changes to the position
of many genes can prevent proper fetal development (lethal). As with gene
mutations, chromosome mutations can be neutral, deleterious, lethal or
even beneficial. However, because chromosome mutations affect much
larger regions of DNA potentially carrying hundreds or even thousands of
genes, they are much more likely to be deleterious or lethal.

Causes of Mutation

Mutations are caused by the following

1. High energy radiation. Exposure to different kinds of rays;

cosmic rays, radiation from radioactive elements, x rays, gamma rays, beta
particles, and ultraviolet rays. High energy radiation is one of the most
frequent causes of mutations.
2. Chemical as mutagens. (agents of mutation). Among these
mutagens are formaldehyde, nitrous acid, peroxide, mustard gas and
marijuana plant’s 61 cannabinoids with its principal component delta-9-
THC has been traced as radioactive, and it takes 5-8 days for just half the
THC in a single marijuana cigarette to clear from the body. THC inhibits the
formation of DNA (the genetic material essential for proper cell functioning
and division) in cells, resulting in cellular death or abnormality.
3. Induced mutations. One form of induced mutations comes from
recombinant DNA experiments. Here, DNA from one kind of organism is
treated with enzyme to isolate a specific sequence of genes. These genes are
then added to another kind of organism, and this added enzymes) with DNA
already present in the recipient organism. Consequently, the organism can
be considered a mutant.

When we hear mutation, people think either of debilitating disorders

or comic book superpowers. While superheroes aren’t yet a
reality, some human mutations may be beneficial and others
cause no serious detriment.
Activities

General Directions: Write the answers on a separate sheet of paper.

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Guided Practice 1

A. Directions: Identify the correct concepts being described in each item.

Write your answer on the space provided for after each number.

a. high energy radiation d. gene mutations

b. Wolf-Hirschhorn syndrome f. Induced mutations
c. frameshift mutation

1. arise when the code of a DNA molecule is changed in some way_____ 2.

occurs when the addition or loss of DNA bases changes a gene’s reading
frame_____
3. caused by a deletion of genetic material near the end of the short (p) arm
of chromosome 4________
4. x rays, gamma rays, beta particles, and ultraviolet rays_______
5. DNA from one kind of organism is treated with enzyme to isolate a
specific sequence of genes.______

B. Directions: Write TRUE if the statement is true and FALSE if the

statement is wrong.

6. Mutations are an important part of evolution, allowing us to develop

adaptations and diversity.
7. Celiac disease digestive order caused by the inability to digest lactose the
main carbohydrate in dairy products.
8. The change in the reading frame alters the grouping of the bases and
subsequently changes the amino acids that are encoded.
9. Point 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.
10.Mutagens are agents of mutations.

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Guided Practice 2

A. Directions: Identify the following types of mutation and explain.

1.

2. Normal……………. GCTATACGCTAGG…..
Base normal substitution GCTATTCGCTAGG……
↓
G

3.

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4.

5.

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Independent Practice

Directions: Identify and describe the following example of mutation by

examining the pictures below. (3pts each)

1.

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2.

3.

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4.

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5.

Assessment

Directions: Answer the following question briefly but thoroughly.

1.When is mutation harmful? When is it beneficial?

__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________.

2. How can mutation be prevented?

__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________.

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3.Can an organism repair mutation? Why?
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________.

4. What is an example of good mutation?

__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________.

5.What is an example of bad mutation?

__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________
__________________________________________________________________________.

Reflection

After answering this guided learning activity, reflect on the following by

completing the statements below:

1. I learned about
________________________________________________________
__________________________________________________________________________.

2. Knowing about topic helps me

__________________________________________
__________________________________________________________________________.

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3. This topic reminds me of
_______________________________________________
_________________________________________________________________________.

4.The part I know the most is _____________________________________________

__________________________________________________________________________.

5. The part that is the most confusing is ___________________________________

____________________

References

Major Types of Mutations | Biology for Majors I. (2020). Retrieved 14

November 2020, from
https://courses.lumenlearning.com/wmbiology1/chapter/reading-
major-types-of-mutations/

Regi.tankonyvtar.hu. 2020. Molecular Diagnostics|Digitális Tankönyvtár.

[online] Available at:
<https://regi.tankonyvtar.hu/hu/tartalom/tamop425/0011_1A_M
olelkularis_diagnoszitka_en_book/ch02.html> [Accessed 2
December 2020
Chromosomal Abnormalities. [online] Available at:
<http://www.newsmedical.net/health/
ChromosomalAbnormalities> [Accessed 17 November
2020].

Dr. Ananya Mandal, M., 2020. Chromosomal Abnormalities. [online]

NewsMedical.net. Available at:
<https://www.newsmedical.net/health/Chromosomal-
Abnormalities.aspx> [Accessed 17 November 2020].

Pathwayz.org. 2020. GENETICS / CHROMOSOMAL MUTATIONS - Pathwayz.

[online] Available at:
<https://www.pathwayz.org/Tree/Plain/CHROMOSOMAL+MUTAT
IONS> [Accessed 17 November 2020]

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