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mutations
Prepared by: Roland G. Sayago, LPT
Lesson objectives
01 02
Discuss mutations that occur in sex Describe the types of genetic
cells; disorders;

03
Explain how mutations may cause
changes in the structure and
function of protein;
What is mutation?
• Mutation refers to a change or alteration in the genetic
material (DNA) of an organism.

• Mutations can occur spontaneously or can be caused by

various external factors such as exposure to radiation or
certain chemicals.

• The different agents that can cause the alteration of the

structure of DNA are called mutagens.
 Causes of
01 mutation
 Causes of mutation
Spontaneous errors during DNA replication

• DNA replication is a complex process, and errors can occur

during the copying of genetic material. These errors can
lead to mutations.
 Causes of mutation
Exposure to radiation

• Exposure to ionizing radiation such as X-rays and

gamma rays can damage the DNA and cause mutations.
 Causes of mutation
Exposure to chemicals

• Some chemicals, such as certain pesticides, can cause

mutations by damaging the DNA.
 Causes of mutation
Viral infections

• Some viruses, such as the human papillomavirus

(HPV), can insert their genetic material into the host
cell's DNA, leading to mutations.
 Causes of mutation
Inherited mutations

• Some mutations can be passed down from parent to

offspring, either through the egg or sperm cells.
 Mutations in
02 sex cells
 Mutations in sex cells

Chromosomes
A structure found inside the nucleus of
a cell. A chromosome is made up of
proteins and DNA organized into
genes. Each cell normally contains 23
pairs of chromosomes.
23 Chromosome Pairs
 Somatic And germinal mutation

Somatic Cells Germinal Cells

Somatic cells are diploid, meaning A cell that develops into a
they contain two sets of reproductive cell, which is an egg in
chromosomes, one inherited from females and a sperm in males.
each parent. They are the cells in
the body other than sperm and egg
cells
 Somatic mutation
A genetic alterations that occur in the DNA of a cell that is not passed on to
the offspring. They can occur in any cell of the body except for the germ cells
 Germinal mutation
Germinal mutations are genetic changes that occur in the germ cells (sperm or
egg cells) that can be passed on to the offspring. These mutations can have
significant consequences for the individual and their descendants.
 Chromosome
03 Mutation
Chromosome mutation
A chromosome mutation is a genetic alteration that affects the structure or
number of chromosomes in a cell. Chromosome mutations can have
significant consequences for an organism's development and health. Here are
some examples of chromosome mutations:

• Deletion
• Duplication
• Translocation
• Inversion
• Aneuploidy
Deletion
A deletion is a chromosome mutation that involves the loss of a segment of
DNA from a chromosome. This can lead to the loss of one or more genes and
can cause genetic disorders such as Cri du Chat syndrome.

Gene segment to be
deleted
Deletion
A deletion is a chromosome mutation that involves the loss of a segment of
DNA from a chromosome. This can lead to the loss of one or more genes and
can cause genetic disorders such as Cri du Chat syndrome.
Duplication
A duplication is a chromosome mutation that involves the duplication of a
segment of DNA within a chromosome. This can lead to an increase in the
dosage of one or more genes and can cause genetic disorders such as Charcot-
Marie-Tooth disease.

Gene segment to be
duplicated
Duplication
A duplication is a chromosome mutation that involves the duplication of a
segment of DNA within a chromosome. This can lead to an increase in the
dosage of one or more genes and can cause genetic disorders such as Charcot-
Marie-Tooth disease.
Translocation
A translocation is a chromosome mutation that involves the exchange of
genetic material between non-homologous chromosomes. This can lead to the
fusion of two genes and can cause genetic disorders such as chronic myeloid
leukemia.

Homologous Homologous
Chromosomes Chromosomes
Translocation
A translocation is a chromosome mutation that involves the exchange of
genetic material between non-homologous chromosomes. This can lead to the
fusion of two genes and can cause genetic disorders such as chronic myeloid
leukemia.
Inversions
An inversion is a chromosome mutation that involves the reversal of the
orientation of a segment of DNA within a chromosome. This can disrupt gene
expression and cause genetic disorders such as hemophilia.

Gene segment to be
inversed
Inversions
An inversion is a chromosome mutation that involves the reversal of the
orientation of a segment of DNA within a chromosome. This can disrupt gene
expression and cause genetic disorders such as hemophilia.
INSERTION
Insertion is a type of mutation that can occur in a chromosome, where a
segment of DNA is inserted into a chromosome, resulting in an increase in the
total amount of genetic material.
INSERTION
Insertion is a type of mutation that can occur in a chromosome, where a
segment of DNA is inserted into a chromosome, resulting in an increase in the
total amount of genetic material.
Aneuploidy
Aneuploidy is a chromosome mutation that involves an abnormal number of
chromosomes in a cell. This can lead to genetic disorders such as Down
syndrome, Turner syndrome, and Klinefelter syndrome.

Homologous
Chromosomes
 Genetic disorders
04
Genetic disorders
Recessive disorder
Sex-linked disorder
Human genetic syndrome
Recessive disorder
Recessive disorders happen when a child receives two defective genes from
each parent. A person who receives one defective recessive gene is called a
carrier. The carrier does not express the disorder because it is not detectable
by the dominant normal gene.

Note: the defective genes can still be passed down to the offspring of the
carrier.

Examples:

• Sickle Cell Anemia

• Tay-Sachs Disease
• Cystic Fibrosis
Sex-linked disorder
Sex-linked disorders are more common in men because they only have one X
chromosome so all defective genes of the chromosome will be expressed.
Women have two X chromosomes so a recessive defective gene can be
covered by the normal one.

Examples:

• Red-green color blindness

• Duchenne muscular dystrophy
• Hypertrichosis of the ears
Human genetic syndrome
Human genetic syndrome occurs when a person have few or too much
chromosomes. A person who survived during chromosomal mutations is
categorized by a distinctive set of mental or physical abnormalities.

Examples:

Cri Du Chat
William Syndrome
Down Syndrome
Edward Syndrome
Klinfelter’s syndrome
Cri Du Chat
Cri du chat is caused by the deletion of part of the
short arm of chromosomes 5. Babies who have this
disease have a wide-set eyes and small head and
jaw.
William syndrome
William Syndrome is the result from the loss of a
segment in chromosome 7. They have large ears and
facial features that make them look like elves.
down syndrome
Down syndrome is known as mongolism. A child
receives an extra chromosome and has a distinctive
physical appearance. It is most common cause of
mental retardation.
Klinefelter’s syndrome
Klinefelter’s syndrome is a genetic disorder where a
male has two or more X chromosomes in addition to
their Y chromosome. They lack facial hair and their
testes, including the prostate gland are
underdeveloped.
summary
Conclusions
Thanks!
Do you have any questions?
[email protected]
(+63)935-161-5521
PHILIPPINE CHRISTIAN UNIVERSITY

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