MUTATION:
CHANGES IN
GENETIC CODE
OBJECTIVES:
At the end of the lesson, the
students should be able to:
• define mutation;
• cite examples of human genetic
disorder; and,
• recognize the importance of
respecting people with genetic
disorder.
THE DOG BIT THE CAT. THE
DOG BIT THE CAR.
THE DOB ITT HEC AT.
What is mutation?
Mutation is a change in the base of
DNA. Mutations may affect only
one gene, or they may affect the
whole chromosome.
Mutations can occur
in two different types
of cells: reproductive
cells and body cells.
Are mutations harmful?
Some mutations in the body cell are
known to cause cancer, while
mutations in sex cells can cause
birth defects. And some mutations
are good for the specie. For example,
a mutation in blood protein can
prevent viruses to thrive in
organisms.
•Mutations may induced by
mutagens.
Mutagens are commonly in the
form of toxic chemicals, harmful
radiation, extreme temperature
and even microbial infection.
Types of mutations that can
occur in gamete cells: the gene
mutation and chromosomal
mutation.
Gene mutation is the permanent
change in the DNA sequence that
makes up a gene.
•May include:
–Substitutions
–Insertions
–Deletions
–Inversion
Chromosomal mutation occurs at
the chromosome level resulting in
gene deletion, duplication or
rearrangement that may occur
during cell cycle.
•Chromosomal mutation may
involve:
- Changing the structure of
a chromosome
- The loss or gain of part of a
chromosome
Types of chromosomal mutation:
1. Deletion- a piece of chromosome is
lost.
Types of chromosomal mutation:
2. Inversion- chromosome segment
breaks off and the segments flips
backward and reattaches.
3. Duplication-
occurs when a gene
sequence is
repeated.
4. Translocation- the part
of one chromosome is
transferred to another
chromosome.
Changes that affect the
structure of chromosomes can
cause problems with growth,
development , and function of
the body systems. Some
changes cause medical
problems.
It is a change in the base of
DNA.
These are commonly in the form
of toxic chemicals, harmful
radiation, extreme temperature
and even microbial infection.
It happens when a piece of
chromosome is lost.
It happens when the part of one
chromosome is transferred to another
chromosome.
It happens when the part of one
chromosome is transferred to another
chromosome.
HUMAN GENETIC
DISORDER
CAUSED BY
a. Cri du chat is caused
by the deletion of part of
the short arm of the
chromosome 5. Affected
individuals have wide-set
eyes, a small head and
jaw, and very short.
b. Down Syndrome is
usually caused by an
extra copy of
chromosome 21
(trisomy 21).
Male Down Syndrome
Female Down’s syndrome
c. Edwards Syndrome is the
second most common
trisomy (trisomy 18) after
down syndrome. Symptoms
include mental and motor
retardation and numerous
congenital anomalies
causing serious health
problems.
d. Klinefelter’s
Syndrome (XXY) is
described when men
are usually sterile
and tend to have
longer arms and legs
to be taller than their
peers.
e. Turner’s Syndrome (X
instead of XX or XY) is
describe when female
sexual characteristics are
present but
underdeveloped.
If you have a family member with
down syndrome, what will you do?
How will you show your respect to
people with down syndrome and
their parents?
What is
mutation?
What are the two
types of mutation?
What are the
examples of
human genetic
disorder?
Match the definition
from column A to the
word that defines it
from column B.
1. It is caused by the
deletion of part of
short arm a. Cri Du Chat
chromosome 5. b. Edward
2. It is caused by an
extra copy of
Syndrome
chromosome 18 c. Mutagens
(trisomy 18) d. Mutation
3. It is a change in the e. Translocation
base sequence of
DNA.
4. These are the agent of
mutation and common in
the form of toxic a. Cri Du Chat
chemicals, and harmful b. Edward
radiation. Syndrome
5. It is a type of
chromosomal mutation
c. Mutagens
wherein the part of one d. Mutation
chromosome is e. Translocation
transferred to another
chromosome.
Assignment:
1. What is human karyotyping?
2. What is genetic engineering?