MUTATION

Group 3
 INTRODUCTORY
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.
WHAT IS MUTATION?
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.
WHAT IS MUTAGEN?
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.
THE GENETIC CODE
The genetic code is like a language
that DNA uses to give instructions to
cells.

G C
THE DIFFERENT TYPES
OF MUTATION
1. POINT MUTATION
2. FRAMESHIFT MUTATION
 POINT 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:
1. nonsense mutation
2. missense mutation
3. silent mutation
 POINT 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.
 POINT MUTATION
1. nonsense mutation - is a change in DNA that causes a
protein to
terminate or end
its translation
earlier than
expected.
 POINT MUTATION
2. missense mutation - 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)
 POINT MUTATION
2. 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.
 POINT MUTATION
2. missense mutation - is a DNA change that results in different
amino acids being
encoded at a
particular position in
the resulting protein
 POINT MUTATION
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.
 POINT MUTATION
3. Silent mutation - the change in the DNA sequence of the
gene has no
effect on the
amino acid
sequence
POINT MUTATION
 FRAMESHIFT MUTATION
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. Frameshift mutations lead to the
abnormal protein with an improper amino acid
sequence that can be either longer or shorter than the
normal protein.
 FRAMESHIFT MUTATION
The following are kinds of chromosomal mutations:
1. Deletion
happens when a base is deleted from the nitrogen base
sequence.
the loss of genetic material in the form of a DNA sequence or
a specific part of the chromosome
 FRAMESHIFT MUTATION
The following are kinds of chromosomal mutations:
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.
 FRAMESHIFT MUTATION
The following are kinds of chromosomal mutations:
3. Inversion - when a segment of a chromosome is reversed end
to end.
 FRAMESHIFT MUTATION
The following are kinds of chromosomal mutations:
4. Insertion- the addition of one or more nucleotide base pairs
into a DNA sequence.
 FRAMESHIFT MUTATION
The following are kinds of chromosomal mutations:
5. Translocation - segments of two chromosomes are
exchanged.
What happens
when a person
has mutated
genes?
 WHAT HAPPENS WHEN A PERSON HAS
MUTATED GENES?
Mutated genes can cause inherited disorders such as sickle cell anemia, which is
caused by a single substitution mutation in the gene responsible for hemoglobin
production. This results in the production of sickle-shaped blood cells that cannot
properly carry oxygen, leading to symptoms such as anemia, pain crises, and
frequent infections. However, sickle cell anemia can be managed with prescription
drugs, folic acid, bone marrow transplants, and blood transfusions.
 WHAT HAPPENS WHEN A PERSON HAS
MUTATED GENES?
The three genetic disorders caused by mutated genes, including albinism, cystic
fibrosis, and Down syndrome. Albinism is caused by a deletion of the tyrosinase
gene, which reduces or eliminates melanin production in skin, hair, and eyes. Cystic
fibrosis is caused by a deletion mutation in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene, leading to an incorrect protein. Down
syndrome is caused by a translocation during meiosis that results in the transfer of
most of chromosome 21 onto chromosome 14, leading to cognitive and physical
impairments.
LET’S CHECK WHAT
YOU HAVE LEARNED!

PLEASE GET 1/2

CROSSWISE
1. (Mutations, Mutagens) are changes to a DNA sequence.
2. (Mutations, Mutagens) are agents that cause alteration in the DNA.
3. The type mutation in DNA or RNA wherein one single nucleotide
base is deleted, added or altered is called (point, frameshift) mutation.
4. Point mutation can lead to (substitution, frameshift) mutation.
5. (Nonsense, Missense) mutation results in the formation of a stop
codon due to the substitution of one nitrogen base.
6. When one nitrogen base of the DNA is replaced, and the result is an
altered codon formation but does not form a stop codon, it is classified
as (nonsense, missense) mutation.
7. (Missense, Silent) mutation can be classified into conservative and
nonconservative.
8. (Conservative, Non-conservative) mutation happens when the same
properties of amino acid were formed to the one that was supposed to
be produced.
9. (Conservative, Non-conservative) happens when amino acid has
produced different properties of protein)
10. (Missense, Silent) mutation happens when a nitrogen base is
altered, but the same amino acid is produced. Remember, many
codons can code for the same amino acid.
11. (Point, Frameshift) mutation happens when the normal sequence of
codons is disorganized by the insertion or deletion of one or more
nitrogen bases, given that the number of nitrogen bases added or
deleted is not a multiple of three.
12. (Cystic Fibrosis, Albinism) is a recessive inherited disorder caused
by the deletion of the amino acid phenylalanine.
13. (Cystic Fibrosis, Sickle cell anemia) is caused by a recessive
disorder through a single substitution mutation in the gene that is
responsible for hemoglobin production.
14-15. (Cystic Fibrosis, Down syndrome) is related with slight
retardation of cognitive ability. It is also characterized with impairment
of physical growth, body and facial features. It is caused by a
(substitution, translocation) during meiosis that transfers most of
chromosome 21 onto chromosome 14.
12. (Cystic Fibrosis, Albinism) is a recessive inherited disorder caused
by the deletion of the amino acid phenylalanine.
13. (Cystic Fibrosis, Sickle cell anemia) is caused by a recessive
disorder through a single substitution mutation in the gene that is
responsible for hemoglobin production.
14-15. (Cystic Fibrosis, Down syndrome) is related with slight
retardation of cognitive ability. It is also characterized with impairment
of physical growth, body and facial features. It is caused by a
(substitution, translocation) during meiosis that transfers most of
chromosome 21 onto chromosome 14.
1. Mutation 9. Non-Conservative
2. Mutagens 10. Silent
3. Point 11. Frameshift
4. Substitution 12. Cystic Fibrosis
5. Nonsense 13. Sickle Cell Anemia
6. Missense 14. Down Syndrome
7. Missense
15. Translocation
8. Conservative