MUTATIONS

Changes in the Genetic Code

 MUTATION
A natural process that changes the DNA
structure of an organism, resulting to
new characteristics

Changes in Genetic Code

 Causes of Mutation

01 02
Spontaneous Induced
mutation mutations
• something went wrong in the • environment: radiation ,
process of replicating or forming chemicals, high temperatures,
the gametes microbial infections
 Types of Mutation

Chromosomal
Gene Mutation Mutations
only a single gene is affected any change in the number or
which happens during the structure of a chromosome.
replication of DNA.
 Gene
Mutation
Gene Mutation is a permanent change in
the DNA sequence that makes up a gene.
 Gene Mutation

Point
Mutation
An incorrect nucleotide is
substituted for the correct
nucleotide
POINT MUTATION
DISORDER
 Gene Mutation

Frameshift
Mutation
Involves the insertion or deletion of a
nucleotide in the DNA sequence that
changes codons. The shift may
produce different amino acids and
proteins.
FRAMESHIFT MUTATION
Cystic
Fibrosis

DISORDER
NORMAL MALE AND FEMALE KARYOTYPE
 CHROMOSOME
MUTATION
A chromosome mutation is an unpredictable change that occurs
in a chromosome. These changes are most often brought on by
problems that occur during meiosis (division process of
gametes) or by mutagens (chemicals, radiation, etc.).
 01
Deletion
One or more gene is
removed.
CHROMOSOME MUTATION

DELETION
CHROMOSOME MUTATION
Cri-du-chat (cat's cry)
syndrome, also known as 5p-
(5p minus) syndrome, is a
chromosomal condition that
results when a piece of
chromosome 5 is missing.
Infants with this condition
often have a high-pitched cry
that sounds like that of a cat.

CRI DU CHAT
 CHROMOSOME MUTATION

Jacobsen syndrome is a condition

characterized by the deletion of
several genes on chromosome 11.
Signs and symptoms vary among
affected people but often include
Paris-Trousseau syndrome (a
bleeding disorder); distinctive
facial features; delayed
development of motor skills and
speech; and cognitive impairment.

JACOBSEN SYNDROME
CHROMOSOME MUTATION

02
Duplication
A segment of genes is copied
twice and added to the
chromosome in duplication
CHROMOSOME MUTATION

DUPLICATION
 CHROMOSOME MUTATION

Charcot (shahr-KOH)-Marie-Tooth
disease is a group of inherited
disorders that cause nerve damage.
This damage is mostly in the arms
and legs (peripheral nerves).
Charcot-Marie-Tooth disease is also
called hereditary motor and sensory
neuropathy.

Charcot-Marie-Tooth
disease
CHROMOSOME MUTATION

03
Inversion
When a segment of genes flip
end-to-end on the chromosome,
inversion occurs.
CHROMOSOME MUTATION

INVERSION
 CHROMOSOME MUTATION

Ring chromosome 4 is a
rare disorder that is
typically characterized by
loss (deletion) of genetic
material from both ends of
the 4th chromosome and
joining of the
chromosomal ends to
form a ring.

Four Ring Syndrome

CHROMOSOME MUTATION

04
Insertion
A portion of chromosome
breaks off, and attaches to
another chromosome.
CHROMOSOME MUTATION

INSERTION
CHROMOSOME MUTATION

05
Translocation
Genes are swapped with
another chromosome..
CHROMOSOME MUTATION

TRANSLOCATION
CHROMOSOME MUTATION

Leukemia is a type of cancer that

affects the blood and bone
marrow. Leukemia begins in a
cell in the bone marrow. The cell
undergoes a change and
becomes a type of leukemia cell.
Once the marrow cell undergoes
a leukemic change, the leukemia
cells may grow and survive better
than normal cells.

LEUKEMIA
CHROMOSOME MUTATION

06
Non-disjunction
During anaphase II in
meiosis, homologous
chromosomes fail to
separate.
CHROMOSOME MUTATION

NON DISJUNCTION
CHROMOSOME MUTATION
Down syndrome (sometimes called
Down's syndrome) is a condition in
which a child is born with an extra
copy of their 21st chromosome —
hence its other name, trisomy 21.
This causes physical and mental
developmental delays and
disabilities.

DOWN SYNDROME
 CHROMOSOME MUTATION

Edwards syndrome is a
chromosomal abnormality
characterized by the
presence of an extra copy of
genetic material on the 18th
chromosome, either in whole
(trisomy 18) or in part (such
as due to translocations).
The additional chromosome
usually occurs before
conception.

EDWARD’S SYNDROME
OTHER DISORDERS
 Klinefelter’s syndrome is a
genetic condition that results
when a boy is born with an
extra copy of the X
chromosome. Klinefelter
syndrome is a genetic
condition affecting males,
and it often isn't diagnosed
until adulthood.

KLINEFELTER’S SYNDROME
 Turner syndrome, a
condition that affects only
females, results when one of
the X chromosomes (sex
chromosomes) is missing or
partially missing. Turner
syndrome can cause a
variety of medical and
developmental problems,
including short height,
failure of the ovaries to
develop and heart defects.

TURNER’S SYNDROME
 Diagnosing Genetic Disorders
There are several ways to determine whether a child will have a
genetic disorder
Two main ways to diagnose:
Analysis of fetal cells
Amniocentesis
Chorionic villus biopsy
Imaging techniques
Ultrasonography (computerized image)
Fetoscopy (direct observation)
 GENETIC ENGINEERING
Genetic engineering is the process of using recombinant DNA
(rDNA) technology to alter the genetic makeup of an organism.
Traditionally, humans have manipulated genomes indirectly by
controlling breeding and selecting offspring with desired traits.
 GENETIC ENGINEERING
A modern biotechnology called genetic engineering produces transgenic or GM
crops of organisms. Scientists have developed methods to move genes from
one species into another. When DNA from two different species are joined
together, it is called recombinant DNA. This process uses restriction enzymes
to cleave one organism’s DNA into fragments and other enzymes to splice the
DNA fragment into a plasmid or viral DNA. Transgenic organisms are able to
manufacture genetic products foreign to them using recombinant DNA. Genetic
engineering has already been applied to bacteria, plants, and animals. These
organisms are engineered to be of use to humans.
 GENETIC ENGINEERING
Today, molecular biologists are finding applications for recombinant DNA
technology: from medical applications, including gene therapy and vaccines;
DNA fingerprinting used to identify persons responsible for crimes and provide
evidence for identity of dead persons; to the creation of genetically modified
crops that are resistant to pesticides, or that make extra vitamins and minerals;
to bacteria that can clean oil spills. While the applications of recombinant DNA
technology are numerous, its limitations are its potential effects on our
ecosystem.
Benefits of Mutation
“Genes are like the story,
and DNA is the language
that the story is written in.”

SAM KEAN