Genetic Code Table

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Q20. Why is specific base pairing essential to the processes of
transcription and translation?
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Q21. How many codon/s codes for one amino acid?
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MUTATION: Changes in the Genetic Code
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When you copy from the blackboard, sometimes you may make mistakes.
In a similar way, mistakes may occur when DNA is replicated. Look at Figure 8
to see some common mistakes in replication. Changes in the DNA sequence
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may delete such protein or change its structure.

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Source: www.shmoop.com
Figure 8. Common Mistakes in Mutation

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 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.
Changes in the genes can occur for a variety of reasons. Mutation may be
induced by factors called mutagens. Mutagens are commonly in the form of
toxic chemicals, and harmful radiation. Sometimes, mistakes occur in DNA
replication, mitosis, and meiosis. All of these can alter the DNA sequence
and length.

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Mutations can occur in two different
types of cells: reproductive cells and body
Sperm cell with 23 Egg cell with 23
chromosomes chromosomes cells. Only mutations in sex cells pass on to
offspring. Mutations affect the reproductive
cells of an organism by changing the

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sequence of nucleotides within a gene in
a sperm or an egg cell. If these cells are
C fertilized, then the mutated gene becomes
a part of the genetic makeup of the offspring
Zygote with 47
chromosomes
as shown in Figure 9. If mutation is severe,
the resulting protein may be nonfunctional,
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Figure 9. Diagram of a cross
with mutated chromosomes and the embryo may not develop. There
are two types of mutations that can occur
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in gamete cells:
• Gene mutation is a permanent change in the DNA sequence that makes
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up a gene.

• Chromosomal mutation occurs at the chromosome level resulting in

gene deletion, duplication or rearrangement that may occur during
the cell cycle and meiosis. It maybe caused by parts of chromosomes
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breaking off or rejoining incorrectly.

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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 • When is mutation inherited? Why are mutations in sex cells heritable?

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.

Figure 10 shows changes in the sequences of bases in normal

hemoglobin and the one affected by mutation. A recessive gene causes
sickle- cell anemia, where most of the red blood cells stiffen and become
sickle shape in affected people. These diseased cells carry less oxygen than

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normal cells. People affected by the disease eventually die.

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C
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Source: education-portal.com
Figure 10. Hemoglobin Gene Mutation
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Consider what might happen if an incorrect amino acid was inserted

in a growing protein chain during the process of translation. Do you think this
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will affect the structure of the entire molecule? This can possibly happen in
point mutation where a change in a single base pair occurs. Read the two
sentences below. What happens when a single letter in the first sentence is
changed?

THE DOG BIT THE CAT.

THE DOG BIT THE CAR.

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.

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 What will happen if a single base is deleted from a DNA strand? You
learned in Activity 3 and 4 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.

THE DOG BIT THE CAT.

THE DOB ITT HEC AT.

What was deleted? Would the result be the same if there would be an

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addition of a single base?

Mutations in chromosomes may occur in a variety of ways. Sometimes

parts of chromosomes are broken off and lost during mitosis or meiosis.

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Now, you will work on an activity that will help you visualize some
chromosomal mutations using models.
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Activity 6
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Chromie Change

Objective:
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• Illustrate the kinds of chromosomal mutations

• Differentiate the kinds of chromosomal mutations
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Material:
Modeling clay of varied color

Procedure:
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A. Translocation

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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 PY
3. Fill in the second column (translocation) of the table.

B. Deletion

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1. Make a model of a chromatid (one of the duplicated copies of a
chromosome).
C
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.
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D

3. Fill in the third column (deletion) of the table.

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 C. Inversion

1. Make a colored chromatid as shown below.

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2. This time break a portion (with 2 colors) of it. Refer to the illustration
below.
C
E D
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D

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 3. Reinsert it to the chromatid in reverse manner.

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4. Fill in the fourth column (inversion) of the table.
C Chromosomal Mutations
Translocation Deletion Inversion
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1. How many
chromosomes are
involved?
E

2. How did you change

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the original structure of

the chromosomes?

3. Which condition/s
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do you think result/s

to change/s of
chromosome material?
Please indicate using
the words loss, gain,
either loss or gain of
genetic material.

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 Q22. How are the three chromosomal aberrations different from each other?
How are they similar?

Q23. Do you think the normal genetic content of the chromosome is

affected?

Q24. Which condition results to gain of chromosome material? Loss of

chromosome material?

Q25. What are some possible effects of these chromosomal mutations?

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(Activity adapted from BEAM – DepEd Material)

Abnormalities in chromosomal structure may occur during meiosis. The

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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.
C
Changes that affect the structure of chromosomes can cause problems with
growth, development, and function of the body’s systems. These changes can
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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
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be rearranged within one chromosome or transferred between two or more

chromosomes.
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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
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disorders. Human examples are the following on the next page:

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 (a) “Cri du chat” is caused by the
deletion of part of the short arm
of chromosome 5. “Cri du chat”
is French, and the condition
is so named because affected
babies make high-pitched cries
that sound like a cat. Affected
individuals have wide-set eyes,
a small head and jaw, are
moderately to severely mentally
retarded, and very short.

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Source: player.mashpedia.com
Figure 11. Cri du chat

flattened
nose and
(b) Down’s syndrome is usually face, upward

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caused by an extra copy slanting eyes

of chromosome 21(trisomy
21). Characteristics include
decreased muscle tone,
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stockier build, asymmetrical single palmer
crease, short widely seperated
skull, slanting eyes and fifth finger that first and second
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mild to moderate mental curves inward toes and
increased skin
retardation. creases
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Source: www.healthtap.com
Figure 12. Down’s Syndrome
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occiput, or back
part of the skull, is
prominent (c) Edwards syndrome, which
small mouth,
small jaw, dysplastic, or is the second most common
short neck malformed ears
trisomy after Down’s syndrome,
shield chest, is a trisomy of chromosome 18.
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or short and
prominent
Symptoms include mental and
sternum; motor retardation and numerous
and wide-set
nipples congenital anomalies causing
serious health problems. About
clenched hands
99% die in infancy. However,
with overlapping those who live past their first
fingers
birthday, usually are quite
flexed big toe; healthy thereafter. They have a
prominent heels
characteristic hand appearance
Source: healthtap.com with clenched hands and
Figure 13. Edward Syndrome overlapping fingers.

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 (d) Jacobsen syndrome is also called terminal 11q deletion disorder. This
is a very rare disorder. Those affected have normal intelligence or mild
mental retardation, with poor or excessive language skills. Most have
a bleeding disorder called Paris-Trousseau syndrome.

e) Klinefelter’s syndrome
(XXY). Men with this condition are
usually sterile and tend to have
longer arms and legs and to be
taller than their peers. They are

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often shy and quiet and have a
higher incidence of speech delay.

(f) Turner’s syndrome (X

instead of XX or XY). Female sexual

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characteristics are present but
underdeveloped. They often have a
Source: http://chengmoh.blogspot.
short stature, low hairline, abnormal
eye features and bone development
C
com/2012/08/genetic-diseases.html

and a “caved-in” appearance to the Figure 14. E. Klinefelter Figure 14. F. Turner
chest
D
Sources:http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/structuralchangeshttp://
www.usd.edu/med/som/genetics/curriculum/1ECHROM3.htm
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Human Karyotyping
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Occasionally, chromosomal material is lost or rearranged during the

formation of gametes or during cell division of the early embryo. Such changes,
primarily the result of nondisjunction or translocation, are so severe that the
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pregnancy ends in miscarriage – meaning loss of an embryo or fetus before

the 20th week of pregnancy or fertilization does not occur at all. It is estimated
that one in 156 live births has some kind of chromosomal abnormality.

Some of the abnormalities associated with chromosome structure

and number can be detected by a test called a karyotype. A karyotype is
an image of the full set of chromosomes of an individual that displays the
normal number, size, and shape. Karyotypes may reveal the gender of a
fetus or test for certain defects through examination of cells from uterine
fluid – a procedure called amniocentesis – or through sampling of placental
membranes as shown in Figure 15.

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 PY
Figure 15. Amniocentesis

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To produce a karyotype, chromosomes commonly derived from actively
dividing white blood cells are stained and photographed. The homologous
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pairs of chromosomes are identified and arranged in order by size, with the
exception of the sex chromosomes; these appear last as shown in Figure
16. These tests are typically done on a blood sample, although any body cell
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could be used. The cell must be undergoing mitosis – preferably in metaphase
– so that the chromosomes are replicated, condensed, and visible under a
microscope.
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EP
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Source: www.austincc.edu
Figure 16. Karyotype of Human Male and Female

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 Genetic Engineering

Understanding the gene has led to the remarkable development of

methods for changing a cell’s DNA. A modern biotechnology called genetic
engineering produces transgenic or GM crops of organisms. Scientists have
developed methods to move genes from one species into another. 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. Transgenic organisms are able to manufacture genetic products foreign
to them using recombinant DNA. Genetic engineering has already been applied
to bacteria, plants, and animals. These organisms are engineered to be of use

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to humans. Figure 17 shows the method for producing recombinant DNA.

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A plasmid (ring of DNA) is
isolated from a bacterium
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An enzyme cuts the DNA
at specific sites

A gene for protein, taken

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from another cell, is cut The recombinant
The new gene
with the same enzyme plasmid is inserted back
directs the
into the bacterium
bacterium to make
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The gene is inserted into the a new protein

plasmid, where it fits exactly. products such as
This is recommended DNA. interferon
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When the bacterium divides

and replicates, it copies itself
and the recombinant DNA

Figure 17. Diagrammatic Illustration of the Steps in Genetic Engineering

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Today, molecular biologists are finding applications for recombinant DNA

technology: from medical applications, including gene therapy and vaccines;
DNA fingerprinting used to identify persons responsible for crimes and provide
evidence for identity of dead persons; to the creation of genetically modified
crops that are resistant to pesticides, or that make extra vitamins and minerals;
to bacteria that can clean oil spills. While the applications of recombinant
DNA technology are numerous, its limitations are its potential effects on our
ecosystem.

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 KEY CONCEPTS:
• • A mutation is a change in the base sequence of DNA. Mutations
may affect only one gene, or they may affect whole chromosomes.
• Mutations in eggs or sperm affect future generations by transmitting
these changes to their offsprings.
• Mutations in body cells affect only the individual and are not passed
on to the offspring.
• 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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Now that you have learned that protein is made using the information

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from DNA and how mutations may cause changes in the structure and function
of a protein, it would be worth finding out how a deeper understanding of
molecular genetics may affect your life. What do you think are the significant
C
contributions of this knowledge to human society? You may share your
thoughts and ideas with your classmates.
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 V. Summary/Synthesis/Feedback

• Deoxyribonucleic Acid (DNA) is the genetic material of organisms.

A DNA is a double helix molecule composed of two complementary
strands of deoxyribonucleotides units. The complementary base pairs
of the DNA are held by hydrogen bonds.

• The central dogma of the transfer of genetic information states that the
sequence involved in the expression of hereditary characteristics is
from DNA to RNA to proteins.

• Genes are segments of DNA that may code for RNA or proteins.

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• Most sequences of three bases in the DNA of a gene code for a single
amino acid in a protein.

• Transcription is the process by which the information in a strand of

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DNA is copied into a new molecule of messenger RNA (mRNA).
C
• There are three major types of RNA in the cell and their functions:
1) The mRNA carries the information from DNA to the ribosomes.
2) The tRNA translates the genetic message carried by the mRNA
through protein synthesis.
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3) The rRNA forms the structural component of the ribosome.
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• Ribosomal RNA serves as the site for attachment of mRNA and tRNA
and for protein synthesis
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• Translation is a process which determines the order of bases in mRNA

of amino acids into a protein. It occurs in a ribosome in the cytoplasm.

• A mutation is a change in the base sequence of DNA. Mutations may

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affect only one gene, or they may affect whole chromosomes.

• Mutations in eggs or sperm may affect future generations by transmitting

these changes in the offsprings. Mutations in non-sex (somatic) cells
only are not hereditary.

• 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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electronic or mechanical including photocopying – without written permission from the DepEd Central Office. First Edition, 2015.