MUTATIONS

By: Ma. Carmel B. Delada

Chromosomes
Humans have 46 chromosomes, or 23 pairs. They are paired as one comes
from the father (through the sperm cell), and the other comes from the
mother (through the egg cell).

The first 22 pairs are called autosomes, and the 23rd pair are the sex
chromosomes.

Two XX chromosomes represent females, while the XY chromosomes

represent males.
Karyotype
• photographs of chromosomes
MUTATIONS
Mutations are changes or alterations in DNA sequences. They usually
manifest on our physical characteristics.

There are two types of mutations based on causes:

a. Hereditary/Germline mutations - these are inherited from parents,
like color blindness. They are present in almost all the cells (including
the germ cells or the reproductive cells) in bodies because they are
inherited.

b. Acquired/Somatic mutations - these occur usually because of lifestyle

or environmental factors like exposure to chemicals or diseases. These
can also occur due to errors during cell division. Acquired mutations
in somatic cells are inherited.

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CHROMOSOMAL
MUTATIONS
-feature changes in the chromosome structure.
-Chromosomal mutations occur due to errors in
cell division, specifically in the crossing over part
during meiosis I. Chromosomal mutations affect
large portions of the DNA strand, and can happen
in both the autosomal and sex chromosomes. The
mutations can manifest in a range of physical and
developmental problems.
These are the different types of
chromosomal mutations:

• Deletion-a segment is lost. An example is Cri-du-chat

syndrome, where a part of chromosome 5p is deleted.
Cri-du-chat syndrome is a rare genetic disorder.
Symptoms vary greatly, but common characteristics
include a high-pitched cat-like cry, slow growth, and
microcephaly, or small head size.
CRI-DU-CHAT
SYNDROME
These are the different types of
chromosomal mutations:

2.Duplication-an extra copy or a gene is repeated. An example is the

Pallister Killian syndrome, where there is an extra chromosome 12.
This syndrome is identifi ed by weak muscle tone (hypotonia) during
infancy and early childhood, intellectual disability, unique facial
features, sparse hair, patches of unusual skin pigmentation, and
other congenital abnormalities.
PALLISTER KILLIAN SYNDROME
These are the different types of
chromosomal mutations:

3. Inversion-a segment is broken off and inverted. An example is

Hemophilia A, a genetic disorder in which the blood does not clot
properly, is caused by an inversion in the X chromosome.
HEMOPHILIA A
These are the different types of
chromosomal mutations:

4. Insertion- extra pairs are inserted into a

new place. An example is when extra nucleotides are
inserted into a DNA sequence, causing spontaneous
mutations or mutations that result from natural
changes in the DNA structure.
 BETA-THALASSEMIA
-blood disorder that reduces the production of hemoglobin

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These are the different types of
chromosomal mutations:

5. Translocation - part of one chromosome attaches

to another chromosome. An example is chronic myeloid
leukemia or CML, a result of translocation between
chromosomes 9 and 22. CML is an uncommon
type of cancer of the bone marrow.
CHRONIC MYELOID LEUKEMIA (CML)

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 Point Mutations
These mutations occur in a change
in a single nucleotide. These can
include deletions, insertions, or
substitutions of one nucleotide in
a gene. A codon change is an
example, like UCU changing to
UAU. Another example is sickle
cell disease, which is the result of
one nucleotide substitution.
Sickle Cell Disease
 Frameshift Mutations
DNA is divided into codons (or a
trio of nucleotides). A deletion or
insertion of one or more nucleotides
will change the reading frame
of coding strand or how the codons
are read. For example, a U nucleotide
was added after the fi rst codon,
throwing off a codon no sequence:
ACG-UAC-CCA-CAG-U.
 EFFECTS OF
MUTATION
Most mutations are neutral or
silent, having neither positive nor
negative effects on organisms. But
some mutations can be beneficial
- new proteins can be made, new
adaptations to an environment can
develop. These are a plus for
survival, reproduction, and
more evolution. They can increase
genetic variation.

Plants mutated by radiation

Some examples of beneficial mutations:

a. Mutations in human physiology like trichromatic vision, which causes

us to discriminate among the three colors red, blue, and green; and
increased bone density, with research on this being used as basis for
skeletal disease therapy.

b. Mutations in proteins that led to resistance to some diseases, like

malaria, HIV, and heart disease. Research on these proteins are used
to help treat or cure diseases.
But mutation can also have adverse effects, causing genetic disorders
and other diseases.

a. Genetic disorders - caused by mutations in one or more genes. An

example is cystic fibrosis, a disease caused by mutation in a single
gene that causes the body to produce thick mucus that affects the
lungs and digestive system.

b. Diseases like cancer - cancer cells are cells that grew out of control,
forming tumors that destroy healthy cells around the tumor. Cancer
cells can also cause an excess of abnormal cells in the blood, like in
leukemia, where there are high numbers of abnormal white blood cells
that are not able to fight infection, also weakening the bone marrow's
OM ability to produce red blood cells and platelets. These are usually caused
by mutations in the genes that control the cell cycle.
THANK YOU!
 Resource page
https://youtu.be/fmapS58JkUg?si=DeWxmWr51z7z-EMA

Grade 10 Science, 3rd Quarter Module 4 pp. 14-19