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Science
Quarter 3 – Module 4.2:
Explain How Mutations may
cause Changes in Structure and
Function of Protein
Science – Grade 10
Alternative Delivery Mode
Quarter 1 – Module 1: Title
First Edition, 2020
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Science
Quarter 3 – Module 4.2:
Explain How Mutations may
cause Changes in Structure and
Function of Protein
Introductory Message
This Self-Learning Module (LSM) is prepared so that you, our dear learners, can
continue your studies and learn while at home. Activities, questions, directions,
exercises, and discussion are carefully stated for you to understand each lesson.
Each SLM is composed of different parts. Each part shall guide you step-by-steps
you discover and understand the lesson prepared for you.
Pre-test are provided to measure your prior knowledge on lessons in each SLM. This
will tell you if you need to proceed on completing this module of if you need to ask
your facilitator or your teacher’s assistance for better understanding of the lesson.
At the end of each module, you need to answer the post-test to self-check your
learning. Answer keys are provided for each activity and test. We trust that you will
be honest in using these.
In addition to the material in the main text, Notes to the Teacher are also provided
to our facilitators and parents for strategies and reminders on how they can best
help you on your home-based learning.
Please use this module with care. Do not put unnecessary marks on any part of this
LSM. Use a separate sheet of paper in answering the exercises and tests. And read
the instructions carefully before performing each task.
If you have questions in using this SLM or any difficult in answering the task in this
module, do not hesitate to consult your teacher or facilitator.
Thank you.
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What I Need to Know
In this module, you are expected to explain how mutations may cause changes
in structure and function of protein.
This module was designed and written with you in mind. It is here to help you
master the genetic mutation. The scope of this module permits it to be used in many
different learning situations. The language used recognizes the diverse vocabulary
level of students. The lessons are arranged to follow the standard sequence of the
course. But the order in which you read them can be changed to correspond with
the textbook you are now using.
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What I Know
Directions: Read each item carefully. Choose the letter of the best answer and write
it in your notebook/on a separate sheet of paper.
1. It occurs when the base sequence of DNA is altered which may affect one
gene or the whole chromosome.
A. mutation C. transcription
B. oxidation D. translation
7. Mutation may induce by factors called ________, they are in the form of toxic
chemicals, harmful radiation, extreme temperature, and microbial infections
are factors that may induced mutations.
A. Halogens C. Protein
B. Mutagens D. RNA
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9. Only mutations in ___________ pass on to offspring.
A. brain cells C. reproductive cells
B. digestive cells D. somatic cells
10. It occurs when a chromosome breaks, and some genetic material is lost.
A. deletion C. mutation
B. inversion D. translocation
11. It involves the breakage of a chromosome in two places; the resulting piece of
DNA is reversed and re-inserted into the chromosome.
A. deletion C. mutation
B. inversion D. translocation
12. Genetic disorder caused by the deletion of part of the short arm of
chromosome 5.
A. Cri du chat syndrome C. Edwards syndrome
B. Down syndrome D. Klinefelter syndrome
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Lesson
Mutation: Changes in
1 Genetic Code
Mutation is a change in the base sequence of DNA. Mutations may affect only
one gene, or they may affect whole chromosomes.
When the code in a gene is changed, a different message may result. Any
change in the sequence of nitrogenous bases in the DNA, any mistake in the
transcription of genetic information from DNA to RNA or pairing of the codon and
anticodon, may cause changes in the kind, sequence and number of amino acids of
proteins synthesized by cells. Changes in the protein structure or level of expression
may lead to changes in cellular properties and behavior, as a result, the organism is
affected.
Most mutations are harmful. Some mutations in a body cell are known to
cause cancer, while mutations in sex cells can cause birth defects. A severe mutation
may lead to cell death and may have no effect on the body. Sometimes mutations
may be useful for the species. For example, a mutation in blood proteins prevents
viruses or parasites to thrive in host organisms .
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What’s In
Directions: Read each item carefully. Choose the letter of the correct answer. Write
it in your notebook/on a separate sheet of paper.
Sequence the following steps in protein synthesis from first to last (1-6).
___A. Transcription
___B. tRNA – amino acid units link to mRNA
___C. Amino acid separate from tRNA
___D. Polypeptide chain assembled
___E. mRNA links to ribosome
___F. Stop codon encountered in mRNA
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What’s New
Read the two sentences below (each word contains three letters just like
CODON, the sequence of three nucleotides which combines to form a unit of genetic
code in a DNA or RNA molecule).
What happens when a single letter in the first sentence is changed? Did you
see that changing a single letter also changes the meaning of the sentence? A change
in nitrogenous base in a protein may yield a different amino acid and a corresponding
change in the protein structure and function, that altering on the set of codon will
cause mutation or alteration which in effect might cause changes in appearance of
an organism.
What will happen if a single base is deleted from a DNA strand? You learned
that an mRNA corresponds to a DNA sequence translated by ribosomes into proteins.
If the new sequence with a deleted base was transcribed, then every codon after the
deleted base would be different. Deletion or insertion of a base may change the
reading frame of the codon leading to frameshift mutation. Read again the two
sentences below.
What was deleted? Would the result be the same if there would be an addition
of a single base?
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What is It
Mutations can occur in two different types of cells: reproductive cells and
body/somatic cells. Only mutations in sex cells pass on to offspring. Mutations affect
the reproductive cells of an organism by changing the sequence of nucleotides within
a gene in a sperm or an egg cell. If these cells are fertilized, then the mutated gene
becomes a part of the genetic makeup of the organism. If mutation is severe, the
resulting protein may be nonfunctional, and the embryo may not develop. There are
two types of mutations that can occur in gamete cells:
Many diseases are caused by the effects of inherited genes. In most cases,
there is only a small difference between DNA sequences in the defective gene and a
normal one. This difference is enough to cause serious and often fatal diseases. These
disease-causing genes are the result of a mutation. They may be passed from one
generation to the next if present in gametes.
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Abnormalities in chromosomal structure may occur during meiosis. The
normal process of crossing-over and recombination may be affected, such that
chromosomes break and reunite the wrong segments. If there is a loss or gain of
chromosomal material, there can be significant clinical consequences.
Changes that affect the structure of chromosomes can cause problems with
growth, development, and function of the body’s systems. These changes can affect
many genes along the chromosome and disrupt the proteins made from these genes.
Structural changes can occur during the formation of egg or sperm cells in fetal
development, or in any cell after birth. Pieces of DNA can be rearranged within one
chromosome or transferred between two or more chromosomes.
The effects of structural changes depend on their size and location, and
whether any genetic material is gained or lost. Some changes cause medical
problems, while others may have no effect on a person’s health. The gain or loss of
chromosome material can lead to a variety of genetic disorders. Below are examples
of humans with genetic disorder.
Source: www.healthtap.com
Figure 3. Down’s Syndrome
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c) Edwards syndrome is the second
most common trisomy after Down’s
syndrome. It is a trisomy of chromosome
18. Symptoms include mental and
motor retardation and numerous
congenital anomalies causing
serious health problems. About 99%
dies in infancy. However, those who live
past their first birthday, usually are
quite healthy thereafter. They have
characteristic hand appearance with
clenched hands and overlapping fingers.
Source: healthtap.com
Figure 4. Edward Syndrome
Source: http://chengmoh.blogspot.
com/2012/08/genetic-diseases.html
Figure 5. Klinefelter Syndrome
e) Turner’s syndrome (X instead of XX
or XY) is described when female sexual
characteristics are present but
underdeveloped. They often have a
short stature, low hairline, abnormal
eye features and bone development and
a “caved-in” appearance to the chest
Source: http://chengmoh.blogspot.
com/2012/08/genetic-diseases.html
Figure 6 . Turner Syndrome
Sources:http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/structuralchangeshttp://www.usd.edu
/med/som/genetics/curriculum/1ECHROM3.htm
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Human Karyotyping
Figure 7 Amniocentesis
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Genetic Engineering
Source www.researchgate.net
Figure 9. Diagrammatic Illustration of the Steps in Genetic Engineering
Now that you have learned that protein is made using the information from
DNA and how mutations may cause changes in the structure and function of a
protein, it would be worth finding out how deeper understanding of molecular
genetics may affect your life. What do you think are the significant contributions of
this knowledge to human society? You may share your thoughts and ideas virtually
with your classmates.
10
What’s More
Now, you will work on an activity that will help you visualize some
chromosomal mutations using models and fill in the column using the information
of your clay model of chromosomes in assessment part of the module. Prepare to
send the video of this performance task to your teacher.
Procedure:
1. Using modeling clay make models of two (2) chromosomes. One should
have a different color and size from the other.
2. Break one part of each of the chromosomes. Exchange the parts and attach
them to each of the other chromosomes. See illustration below.
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Activity 1.2. Deletion
Procedure:
2. When done, remove a portion of it (close to either end of the chromosome or within
the long arm or short arm). If you choose to remove a part within the arms, be sure
to join back the bottom part. See sample illustration.
Procedure:
2. This time break a portion (with 2 colors) of it. Refer to the illustration below and
reinsert the chromatid in reverse manner.
Source: www.medlineplus.com
Figure 12a. Paracentric Inversion
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Source : www. medlineplus.com
Figure 12b.Pericentic Inversion
Procedure:
1. Make models of two (2) chromosomes using clay. One should have a different color
from the other.
2. Break one part of each of the chromosomes. Attach the two different chromosomes
forming two centromeres as shown in the figure and remove the unnecessary part.
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Activity 1.5. Ring Chromosome
Procedure:
2. Remove the upper and lower portion of the chromosome as shown in the figure.
Attach the two end forming a ring. See sample illustration.
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Name: _________________________________________ Date: ________________
Grade & Section: _____________ Teacher: _________________________________
RUBRIC
Total
Teachers Comments:
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What I Have Learned
2. Mutations can occur in two different types of cells: reproductive cells and
body/somatic cells.
3. There are two types of mutations that can occur in gamete cells: Gene
mutation and Chromosomal mutation.
7. The gain or loss of chromosome material can lead to variety genetic disorders.
10. When DNA from two different species are joined together, it is called
recombinant DNA. This process uses restriction enzymes to cleave one
organism’s DNA into fragments and other enzymes to splice the DNA
fragment into a plasmid or viral DNA.
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What I Can Do
Directions: Read each question carefully. Briefly explain your answers and write
them in your notebook/on a separate sheet of paper.
1. What do you think are the significant contributions of this knowledge on how
mutations may cause changes in structure and function of protein to us
humans?
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
2. What implications or issues concern you the most, after knowing that
mutations can and does occur naturally or with human intervention?
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
_____________________________________________________________________
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Assessment
Directions: Fill in the table below using the information of your chromosome clay
model. Draw the table in your notebook/on a separate sheet of paper.
Chromosomal Mutations
Trans Deletion Inversion Dicentric Ring
location
1. How many
chromosomes are
involved?
3. Which condition/s do
you think result/s to
change/s of the
chromosome material?
Activity 2
Directions: Using the following definitions, unscrambled the letters to arrive at the
correct genetic disorder. Write your answers in your notebook/on a separate sheet
of paper.
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Additional Activities
Directions: Below are pictures of persons with Albinism, a genetic disorder caused
by mutation of genes, responsible for the production of skin pigment,
melanin (a protein). In some part of the globe, people with albinism are being blamed
for COVID -19, with your understanding about mutation make a slogan to raise
awareness about albinism its causes and implications to human society. Write
your answer to this activity in your notebook/on a separate sheet of paper.
Source: www.albino.org.com
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Name: _________________________________________ Date: ________________
Grade & Section: _____________ Teacher: _________________________________
RUBRIC
Performance Criteria Value
Indicator 1 2 3 4
Total
Teachers Comments:
20
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Assessment (Activity 1)
Chromosomal Mutations
Translocation Deletion Inversion Dicentric Ring
1. How many 2 1 1 2 1
chromosomes are
involved?
2. How did you Broke a part Broke a Broke a Fused the two Broke the
change the & attached it part part, chromosomes, end parts
original structure to another reversed and forming two and fused
of the chromosome. centromeres.
reinserted both end
chromosome?
it into the forming a
chromosome ring
3. Which Either gain or Loss of Either gain Either gain or Loss of
condition/s do loss of genetic genetic or loss of genetic genetic
you think result/s material OR Material loss of material OR Material
to change/s of the
no loss or gain genetic no loss or
chromosome
material? of genetic material OR gain of genetic
material no loss or material
during the gain of during the
exchange genetic process
process material
during the
process
What I Know
What’s In Assessment
1. A
2. B 1. C Activity 2
3. D 2. B
3. A 1. CRI DU CHAT
4. A
5. A 4. B 2. EDWARD SYNDROME
6. B 5. 1 3. TURNER SYNDROME
7. B 6. 3 4.KLINEFELTER
8. D 7. 4 SYNDROME
9. C 8. 5 5.DOWN SYNDROME
10. A 9. 2
11. B 10. 6
12. A Additional
13. A
14. C What I can do Activities
15. D
Answers may vary Slogan may vary
Answer Key
References
APEX Biology Unit 6 Anatomy of Genes Lessons 1-5 Heredity and Genetics
Biggs. A. Gregg, K., et al. (2000). Biology: the Dynamics of Life. USA: McGraw-
Hill Companies. Inc.
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