MUTATION

MARCH 19, 2024

G10-Datu Bago
Brady S. Nave
Group Activity: The Fastest Protein
Synthesizer
DNA TAC AGT ACT
DNA

DNA TAC AGT ACT

mRNA
tRNA
Amino
Acid
Group Activity: The Fastest Protein
Synthesizer
DNA TAC AGT ACT
DNA ATG TCA TGA
DNA TAC AGT ACT
mRNA AUG UCA UGA
tRNA UAC AGU ACU
Amino MET SER STOP
Acid
Objectives:
1. Explain how mutations may cause changes in
the structure and function of a protein;
2. List the differentiate types of mutations; and
3. Familiarize the advantages and disadvantages
of mutations in our lives.
Group Activity 2: Tracing the error

•Each group will be given a set of codons

to check if the pairing of nucleotides,
pairing of codons to anticodons and
pairing of mRNA and amino acids
 DNA TAC AGT ACT
DNA ACG
ACG TCA TGA

DNA TAC AGT ACT

mRNA AUG CCA UGA
tRNA UAC AGU ACG
ACG
Amino MET SER STOP
Acid
MUTATION takes place when there is
-a change in the sequence of nitrogenous bases in
the DNA
-A mistake in the transcription of genetic information
from DNA to RNA
-an error in the pairing of codons and anticodons
This results to production of an incorrect
protein. The effects of mutations may be minor or
undetectable alteration or it can be a drastic change
that may be beneficial or severe effects that results
to abnormality or even death.
Mutations may happen in sex cells (germline
mutation) or body cells (somatic mutation).
GENE CROMOSOMA
L
 1

2
SUBSTITUTI INSERTION DELETION
ON
 MUTATION
A. GENE MUTATION
BASE BASE INSERTION
SUBSTITUTION OR DELETION

This mutation is often more

This occurs when one disastrous because it
nucleotide is substituted involves insertion or
with another deletion of a number of
nucleotides.
Ex. Sickle-cell anemia – when Ex. Fragile X syndrome, an excess
valine is incorporated in one of 200 CGG nucleotide repeats
portion of the polypeptides in the are inserted into the gene,
hemoglobin molecute instead of making it non-functional.
 GENE CROMOSOMA
L

INSERTION /
SUBSTITUTION
DELETION

Sickle – cell anemia Fragile X Syndrome

PARTS OF THE CHROMOSOME
CHROMOSOMAL MUTATION
1. STRUCTURAL MUTATION- occurs when DNA
structure changes.

DUPLICATIO DELETION INVERSION TRANSLOCATIO

N N
 CHROMOSOMAL MUTATION
1. STRUCTURAL MUTATION
A segment When portion
A The broken
from of
chromosome ends reattach
chromosome chromosomes
segment lost in a reverse
is transferred are present in
order
to another multiple
copies
DELETION TRANSLOCATI DUPLICATION INVERSION
ON

MYELOID
CRI DU CHAT- May result in
LEUKEMIA- Its effects are
the loss of a phenotypic
mov’t of human less severe and
segment of changes that
chromosome 22 are difficult to
human are usually not
to chromosome detect
CRI DU CHAT – DELETION #5
 GENE CROMOSOMA
L

INSERTION /
SUBSTITUTION STRUCTURAL
DELETION

Sickle – cell anemia Fragile X Syndrome

DELETION TRANSLOCATION DUPLICATION INVERSION

CRI DU CHAT (5) MYELOID LEUKEMIA

CHROMOSOMAL MUTATION
2. NUMERICAL MUTATION- when a homologous chromosome or a
pair of sister chromatids fail to separate during mitosis or meiosis.

The addition or deletion of the chromosome number is

called ANEUPLOIDY.
Nondisjunction (failure to separate) during the division of
sex cells (egg or sperm) will produce abnormal gametes
that in turn produce abnormal offspring.
MONOSOMY –is the deletion of chromosome
TRISOMY – is the addition of one chromosome
 GENE CROMOSOMA
L

INSERTION /
SUBSTITUTION STRUCTURAL NUMERICAL
DELETION
Monosomy Trisomy
Sickle – cell anemia Fragile X Syndrome

DELETION TRANSLOCATION DUPLICATION INVERSION

CRI DU CHAT (5) MYELOID LEUKEMIA

 GROUP ACTIVITY
• Arrange all the pairs of chromosomes from 1 to 23. (22
pairs of autosomal chromosomes and one pair of sex
chromosomes. (5 minutes)
• Analyze of which chromosome pairs has aneuploidy
(monosomy or trisomy)
• Identify the child’s biological sex (Male or Female)
• Assign 1 or 2 reporters to describe the characteristics of
this type of syndrome using the given materials.
MONOSOMY 23 – TURNER SYNDROM
MONOSOMY 23 – TURNER SYNDROME
TRISOMY 23 – KLINEFELTER SYNDRO
OR XXY SYNDRO
TRISOMY 23 – KLINEFELTER SYNDROME
OR XXY SYNDROME
TRISOMY 23 – JACOBS SYNDROME
OR XYY SYNDROM
TRISOMY 23 – SUPER FEMALE
SYNDROME
OR TRIPLE X
SYNDROME
TRISOMY 13 – PATAU SYNDROM
TRISOMY 21 – DOWN SYNDROME
 GENE CROMOSOMA
L

INSERTION /
SUBSTITUTION STRUCTURAL NUMERICAL
DELETION
Monosomy Trisomy
Sickle – cell anemia Fragile X Syndrome
Turner (23-XO) Klinefelter (23-XXY)

DELETION TRANSLOCATION DUPLICATION INVERSION

MYELOID LEUKEMIA JACOB (23-XYY) PATAU (13)

CRI DU CHAT (5)

SUPER FEMALE (23-XXX) DOWN (21)

What is Mutation?
Mutation is a change in the genetic material.
It may affect sets of chromosomes entire
chromosomes, or genes.
It can occur in two different types of cells: sex
cells and body cells.
Only mutations in sex cells are passed on to
offspring.
What can influence mutations?
https://www.teachengineering.org/lessons/view/uoh_mutations_less
on01
• Mutations naturally occur over time, which is the
underlying cause of evolution
• Exposure to certain chemicals is one environmental
factor that may induce DNA mutations. Typically,
anything that we identify as carcinogenic (may
cause cancer) has negative side effects on DNA, and
may lead to cancer. This includes the chemicals
found in cigarette smoke as well as those found in
meats cooked on the grill. These chemicals belong
to a larger class called mutagens, meaning they
can lead to changes in genetic material.
What can influence mutations?
Radiation
• Ultraviolet radiation from the sun can damage genetic
material by changing the properties of nucleotides in the DNA.
Overexposure to ultraviolet radiation is known to lead to skin
cancer.
• X-rays and gamma radiation are also physical mutagens and
forms of ionizing radiation; this means that these types of
radiation possess enough energy to remove electrons from
atoms, thus forming ions and affecting how different
biomolecules interact. While a typical dose of x-rays received
during a medical procedure is low, it does marginally increase
a person’s cancer risk.
What can influence mutations?
• Alternatively, retroviruses such as HIV naturally
experience mutations at a much higher rate than other
organisms, which can be attributed to the fact that they
possess RNA instead of DNA. The process by which RNA
is copied and replicated is not as precise as that of DNA.
Therefore, by the time our immune system has adjusted
to fight a virus like HIV, the HIV virus has already
mutated again and the immune system must start over.
The mutations in the HIV’s RNA lead to alterations in the
protein markers on the virus that the immune system
targets, and if the target is always changing, it is almost
impossible for the immune system to remove the virus.
Engineering Connection
• While mutations occur naturally over time, biological
engineers are able to genetically modify various
organisms. Humans have been genetically modifying
plants and animals for thousands of years. Humans
have accomplished this by selectively breeding or
inbreeding in order to produce and “improve” specific
traits, such as breeding watermelons to be larger and
have fewer seeds or breeding chickens to have more
white meat and more breast meat.
Engineering Connection
• With the advancement of technology, engineers can
directly manipulate the genetic code of plants and
animals. Some examples of genetically modified (and
controversial) organisms include disease-resistant
papaya, vitamin A-rich rice and drought-tolerant corn.
Currently, researchers are studying gene editing in
the womb. If it is determined that an unborn child has
a disease or disability, then we may one day be able
to edit the genes of the unborn child and prevent the
issue from appearing in the child.