10th

grade

MUTATIONS
MUTATIONS
 Mutations are changes made
to an organism’s genetic
material.
The fat cat eats the black rat.
The fat car eats the black rat.
CAUSES OF
MUTATIONS
Mutagens- anything that causes a mutation.
● errors in replication
● errors during transcription
● Radiation
● viruses and
● many other things
 CLASSIFICATION
OF
MUTATIONS
1. GENE 2. CHROMOSOMA
MUTATION MUTATION
GENE
MUTATION
is a permanent change in
the DNA sequence that
makes up a gene.
CHROMOSOM
AL MUTATION
 occurs at the chromosome level resulting
in gene deletion, duplication or
rearrangement that may occur during the
cell cycle and meiosis. It may be caused
by parts of chromosomes breaking off or
rejoining incorrectly.
TYPES OF MUTATION
INSERTION
01
Mutations in which extra
base pairs are inserted into
a new place in the DNA.
INSERTION MUTATION EXAMPLE

FRAGILE X
SYNDROME
Caused by excessive
repeats of a short sequence
of nucleotides, CGG.
TYPES OF MUTATION

02 DELETION
Are mutations in which a
section of DNA is lost or
deleted.
DELETION MUTATION EXAMPLE
CYSTIC FIBROSIS
 Hereditary disease that
affects the lungs and
digestive system.
 The body produces thick
and sticky mucus that can
clog the lungs and obstruct
the pancreas.
TYPES OF MUTATION
03 SUBSTITUTIO
N
Is a mutation that
exchanges one base for
another.
SUBSTITUTION MUTATION EXAMPLE
SICKLE CELL
ANEMIA
Is a genetic disorder in which
the red blood cells have
abnormal crescent shape, block
blood vessels, and do not last
as long as normal red blood
cells.
TYPES OF MUTATION
DUPLICATIO
04
N
A type of mutation that
involves the production of
one or more copies of a
gene or region of a
chromosome.
DUPLICATION MUTATION EXAMPLE
PALLISTER-KILLIAN
MOSAIC SYNDROME
 a multi-system disorder that is
characterized by extremely weak
muscle tone (hypotonia) in infancy
and early childhood, intellectual
disability, distinctive facial features,
sparse hair, areas of unusual skin
coloring (pigmentation), and other
birth defects.
TYPES OF MUTATION
05 INVERSION
Is a chromosome rearrangement in
which a segment of a chromosome is
reversed end to end.
 INVERSION MUTATION EXAMPLE

HEMOPHILIA
is usually an inherited
bleeding disorder in
which the blood does
not clot properly.
TYPES OF MUTATION
TRANSLOCATI
06 ON
This happens when part of a
chromosome breakoff and is
combined to another
chromosome.
TRANSLOCATION MUTATION
EXAMPLE
DOWN SYNDROME

a condition in which a
person has an extra
chromosome.
Also known
as
“Trisomy
21”
KARYOT
YPE
is an individual's
complete set of
chromosomes.
WHAT IS
GENETIC
DISORDER?
 Caused by an abnormality in the
genetic makeup of an individual.

 Can be caused by a chromosomal

abnormality.
1. RECESSIVE
DISORDER
Happens when a child
receives two defective
genes from each parent. CARRIER
person who receives
one defective recessive
gene.
EXAMPLE:
SICKLE CELL
ANEMIA
Is a genetic disorder in which
the red blood cells have
abnormal crescent shape, block
blood vessels, and do not last
as long as normal red blood
cells.
EXAMPLE:
CYSTIC FIBROSIS
 Hereditary disease that
affects the lungs and
digestive system.
 The body produces thick
and sticky mucus that can
clog the lungs and obstruct
the pancreas.
 2. SEX-LINKED DISORDERS
Caused by a genetic mutation on the X
chromosome.
More common in men because they have
only one x chromosome , so all defective
genes on the chromosomes will be
exposed.
 EXAMPLE:

COLOR
BLINDNESS
 If you have color blindness, it
means you see colors
differently than most people.
 HEMOPHILIA
is usually an inherited
bleeding disorder in
which the blood does
not clot properly.
3. HUMAN GENETIC
SYNDROME
 Genetic disorders that may have few or too many
chromosome.
 A person who survived during chromosomal
mutation is characterized by a distinctive set of
mental or physical abnormalities.
 EXAMPLES:

CRI DU CHAT
(cat's cry) SYNDROME
a chromosomal condition
that results when a piece of
chromosome 5 is missing .
DOWN SYNDROME

a condition in which a
person has an extra
chromosome.
Also known
as
“Trisomy
21”
 KLINEFELTER’S
 Is a SYNDROME
syndrome where boys and men are
born with an extra X chromosome.
 Men with this condition are usually
sterile and tend to have longer arms and
legs and are taller than their peers. They
lack facial hair and their testes including
their prostate gland are underdeveloped.
 TURNER’S SYNDROME

a condition that affects only females,

results when one of the X chromosomes
is missing
 GERMLINE MUTATIONS
(that occur in eggs and sperm) can be
passed on to offspring

 SOMATIC MUTATIONS
(that occur in body cells) are not
passed on.
 ARE
MUTATION
ALWAYS BAD?
 MUTATIONS CAN
BE:
NEUTRAL
BENEFICI
AL
HARMFU