GENETIC

MUTATIONS
PRAYER
Checking of attendance
REVIEW

A.The Central Dogma of Molecular

Biology
 B. The Central Dogma of Molecular Biology

• The central dogma of molecular biology states that DNA contains

instructions for making a protein, which are copied by RNA. RNA
then uses the instructions to make a protein. In short: DNA → RNA
→ Protein, or DNA to RNA to Protein
• Significance of the Central Dogma of Molecular Biology
• Thus, the central dogma provides the basic framework for how
genetic information flows from a DNA sequence to a protein
product inside cells and thus give an insight to the important
processes going on inside
MODULE 6 Mutation

MODULE 6

Mutation
Mutations are alterations to a DNA sequence.
If one thinks of the information in DNA as a
series of sentences, mutations are errors in
the spelling of the words that make up those
sentences. Sometimes mutations are
insignificant, like a misspelled word in which
the meaning is still fully clear. At other times
mutations have stronger effects, like a
sentence whose meaning is completely
changed
 WHAT IS A GENETIC
MUTATION?

A genetic mutation is a The four nucleotides are:

change that occurs in • Adenine (A)
• Cytosine (C)
our DNA code
• Guanine (G)
(sequence of
• Thymine (T)
nucleotides).
 REMEMBER:
A gene is a section of DNA (genetic code).

Our genetic code is a blueprint for our

bodies. Just like how different LEGO
blocks can create different structures, our
DNA determines how our bodies are built
and function.
 Sometimes, mistakes
happen during the DNA
copying process, leading
to changes called
mutations.
 How common are mutations?

Mutations occur at a frequency

of about one in every one billion
base pairs. Everybody has
about six mutations in each cell
in their body.
Mutations are not always seen.
The affected gene may still
function. Mutations may be
harmful which may cause
genetic disorder or cancer,
beneficial, and may have no
effect on the organism
A mutation is an alteration in the
nucleotide sequence of the genome of an
organism. Mutations result from errors during
DNA replication, mitosis, and meiosis, may or
may not produce noticeable changes in the
observable characteristics (phenotype) of an
organism. Most often, mutations come to mind
as the cause of various diseases or other birth
defects
 WHAT CAUSES
MUTATIONS?
Errors in DNA replication during cell division.

Exposure to mutagens (radioactive

substances, x-rays, ultraviolet radiation and
certain chemicals).

Viral infections and other infectious agents.

Mutations may be induced by factors called
mutagen. Mutagen is something that causes
the DNA to change, it can be induced by
natural error or environmental factors such as
chemicals, ionizing radiation such as UV rays,
X-rays, gamma rays and alpha particles.
•Figure 3 - The ultraviolet (UV) rays in sunlight cause
the formation of thymine dimer mutations, which is
when two thymines on the same strand of DNA bond
together instead of correctly bonding with adenines
on the opposite strand.
•This can cause mutations when making a copy of
DNA for the next generation of cells.
 Mutations fall into two categories — somatic
mutations and germline mutations.
> Somatic mutations occur in their namesake
somatic cells, which refer to the various cells of
one’s body that are not involved in reproduction;
bone or blood cells for example.
If the replication of a cell with a somatic mutation
is not stopped, then the population of abnormal cells
will expand. However, somatic mutations cannot be
passed on to an organism’s offspring.
 > On the other hand, germline
mutations occur in the germ cells or the
reproductive cells of multicellular
organisms; sperm or egg cells for
example.

> Such mutations can be passed on to

an organism’s offspring.
TYPES OF MUTATIONS
1. POINT MUTATION

Point mutations are like small spelling mistakes

that affect only one or a few letters in our DNA
code.

A single base pair may be added, deleted or For example, a G

changed. (guanine) might be
swapped for a C
(cytosine).
TYPES OF MUTATIONS
POINT MUTATION

Gene mutations or also known as point

mutations occur when the base sequence of a
codon is changed

For example, a G
EXAMPLE: GCA is changed to GAA (guanine) might be
swapped for a C
(cytosine).
TYPES OF MUTATIONS
POINT MUTATION
This include substitution, insertion and
deletion of one nucleotide in a gene

Deletion and insertion is also called

frameshift mutations, inserting or For example, a G
deleting one or more nucleotides. It (guanine) might be
changes the “reading frame” like swapped for a C
changing a sentence. (cytosine).
TYPES OF MUTATIONS
POINT MUTATION

SUBSTITUTION MUTATION - A single

nitrogen base is substituted or replaced
for another in a codon.

The three-based code in DNA is For example, a G

(guanine) might be
called codon. swapped for a C
(cytosine).
1 2 3
 TYPES OF MUTATIONS
SUBSTITUTION MUTATION
Example: Normal DNA: CGA – TGC–
ATC
Mutated DNA: CGA – TGC –
GTC

Note: From the Normal DNA on For example, a G

(guanine) might be
the third codon which is ATC swapped for a C
(cytosine).
was changed to GTC.
 Insertions or deletions are
examples of point mutations.

They are like adding or

removing LEGO blocks from
the blueprint, causing the
instructions to be read
differently.
 Analogy: Three (3) letter words
because codons are three (3)
letters.
 The cat ate the rat. mutated to
Tha cat ate the rat.

It has a little effect. You still

have the idea. It’s like a
typographical error only.
SUBSTITUTION MUTATION

Another way of substitution:

 The cat ate the rat. mutated to
 The hat ate the rat.

It changes the thought of the

sentence. The effect depends
on where the substitution
happens.
 WHAT CAN HAPPEN?

Some mutations do not cause any noticeable

changes, while others can lead to genetic
disorders or diseases.

Mutations can even give an organism an advantage

in its environment, leading to new traits or abilities
(species evolution).
 TRY THIS!
1. THE MAN HIT THE DOG.
- Replaced or substitute a letter into
any word above. Rewrite the
sentence.
- Each word must have 3 letters to
represent the codon.
-
POSSIBLE ANSWER

THE MAN HIT THE DOG

THE CAN HIT THE DOG

SUBSTITUTION: MAN MUTATED TO

CAN
An example of substitution mutation
is sickle cell anemia
Only one amino acid changes in the hemoglobin.

The hemoglobin still functions but it folds differently

changing the shape of the red blood cells. (RBC).
.
 REAL LIFE EXAMPLE
SICKLE CELL ANEMIA

The disease is caused by a mutation in the gene that helps make

hemoglobin — a protein that carries oxygen in red blood cells.

It is a point mutation where A (adenine) is replaced by a T (thymine).

 Insertion mutation
A nitrogen base is added or inserted to the
sequence. It causes the triplet “frames” to
shift. It always affects the amino acids
consequently the, protein.

Example:
Normal DNA: CGA – TGC – ATC Note: From the Normal DNA on
Mutated DNA: CGA – TAG – CAT – C the second codon which is
TGC was changed to TAG.
Analogy: Insertion
The cat ate the rat. mutated to
The cca tat eth era t.
Inserting the c causes a
Frameshift. The sentence no
longer makes sense. Insertions
may have huge effects.
 TRY THIS!
2. THE RAT HAS HAT.

- Insert a letter into any word

above. Rewrite the sentence. Each
word must have 3 letters to
represent the codon.
 POSSIBLE ANSWER
2. THE RAT HAS HAT.
THE CRA THA SHA T
 Huntington’s disease is caused by a
dominant insertion mutation. CAG repeat of HTT
gene on chromosome 4 that leads to the
production of a protein that damages the brain.
Person with this disorder have involuntary
movement and loss of motor control. They
eventually have memory loss and dementia. The
disease is terminal
*Image Source:
https:/ / slidepalyer.com/ slide/ 5308592/ genetics and
heredity published by Brianne Norman
 Deletion mutation
A nitrogen base is removed or deleted to the
sequence. It causes the triplet “frames” to shift. It
always affects the amino acids consequently the,
protein.

Note: From the Normal DNA on the

second codon which is TGC was
Example: changed to TCA because from the
Normal DNA: CGA – TGC – ATC
second codon TGC, the G has
Mutated DNA: CGA – TCA –
been removed and the codons
TC
moved backwards
Analogy: Deletion
The cat ate the rat. mutated to
Thc ata tet her at. (From word,
The – the letter e was deleted.)
The sentence no longer makes sense.
Deletions can have huge effects.
 Try this!
3.THE FOX CAN HOP.

Delete or remove a letter from

any word above. Rewrite the
sentence. Remember each word
must have 3 letters to represent
the codon
 2. Chromosome mutation
> may involve changing the structure of
chromosome, the loss or gain of part of a
chromosome. This includes inversion,
translocation, duplication, deletion and
nondisjunction
These mutations may lead to common abnormalities which
include Down syndrome (caused by an extra
chromosome #21), Klinefelter syndrome (caused by an
extra X chromosome), Turner syndrome (caused by a
missing X chromosome), and Cri-du-chat syndrome
(partial deletion of chromosome number 5).