MUTATIO
N:
Changes in the
Genetic Code
MUTATIONS
A natural process that changes the DNA
structure of an organism, resulting to
new characteristic.
Changes may be due to errors in
replication, transcription, radiation,
viruses, and many other things.
Changes in Genetic Code.
Causes of Mutation
1. Spontaneous Mutation
Something went wrong in the process
of replication or forming the gametes.
2. Induced Mutations
Environment: Radiation, chemicals,
high temperatures, and microbial infections.
Types of Mutation
Point Chromosomal
Mutation Mutation
Only a single gene is Any change in the
affected which number or structure of
happens during the a chromosome
replication of DNA
POINT MUTATION
Large category of mutation
that describe a change in
single nucleotide of DNA,
that causes DNA to be
different from the normal
type gene sequence.
POINT MUTATION
INSERTION
-Extra base pair is
added to a sequence of
bases
INSERTION: DIEASES EXAMPLE
Beta-Thalassemia
-Blood disorder that
reduced the
production of
hemoglobin
POINT MUTATION
DELETION
-Extra base pair is
deleted to a sequence
of bases
DELETION: DIEASES EXAMPLE
Cystic Fibrosis -The body produces
-Hereditary disease thick and sticky mucus
that affects the that can clog the lungs
lungs and digestive and obstruct the
system pancreas
DELETIONTION: DIEASES EXAMPLE
POINT MUTATION
Substitution
-Bases are swapped
for different ones
TYPES of
Substitution
Mutation
1. Nonsense Mutation
2. Missense Mutation
NONSENSE MUTATION
Nonsense mutation
results in the
formation of a stop
codon due to the
substitution of one
nitrogenous base.
NONSENSE MUTATION
MISSENSE MUTATION
Missense mutation is Conservative
classified when one Mutation (same
nitrogenous base of properties)
the DNA is replaced, Non-conservative
and the result is an Mutation (different
altered codon but properties)
does not form a stop
codon.
NONSENSE MUTATION
SILENT MUTATION
Silent mutation Remember, many
happens when a codons can code
nitrogenous base is for the same amino
altered but the same acid
amino acid is
produced.
NONSENSE MUTATION
SUBSTITUTION: DIEASES EXAMPLE
Sickle Cell Anemia
-It affects the shape
of red blood cells,
which carry oxygen
to all parts of the
body.
SUBSTITION: DIEASES EXAMPLE
Types of Substitution Mutation
CHROMOSOMAL
MUTATION
FRAMESHIFT MUTATION
Deletion
Deletion happens when
a base is deleted from
the nitrogen base
sequence
Duplication
Duplication occurs when
a part of a chromosome
is copied (duplicated) too
many times.
Inversion
Inversion happens
when a segment of a
chromosome is
reversed end to end.
Insertion
Insertion happens when the addition of one or more
nucleotide base pairs gets into a DNA sequence
Translocation
Translocation happens when
segments of two chromosomes
are exchange
GENETIC DISORDERS
Caused by an
abnormality in the
genetic makeup of an
individual
Can be caused by a
chromosomal
abnormality
What is
Karyotyping
It is? an
individuals
collection of
chromosomes
CRI-DU-CHAT SYNDROME
Also known as 5p- (5p minus)
syndrome, a chromosomal
condition that results when a
piece of chromosome 5 is
missing
Affected individuals have
distinctive facial features,
including widely set eyes, low-
set ears, a small jaw, and a
rounded face
DOWN’S SYNDROME (Trisomy 21)
Down syndrome is a condition
in which a baby is born with an
extra chromosome number 21.
The extra chromosome is
associated with delays in the
child’s mental and physical
development, as well as an
increased risk for health
problems
EDWARDS’S SYNDROME
(Trisomy 18)
Chromosomal condition
associated with abnormalities
in many parts of the body.
Often have slow growth before
birth and a low birth weight.
PATAU SYNDROME (Trisomy
13)
The extra genetic material
disrupts normal development,
causing multiple and complex
organ defects.
JACOBSEN SYNDROME
A condition caused by a loss
of genetic material from
chromosome 11
Delayed development,
including speech and motor
skills.
KLINEFELTER SYNDROME
Results from the presence of
one extra copy of the X
chromosome in each cell (47,
XXY). Extra copies of genes
on the X chromosome
interfere with the male sexual
development, preventing the
testes from functioning
normally and reducing the
levels of testosterone.
TURNER SYNDROME
Results when one normal X
chromosome is present in a
female’s cells and the other
sex chromosome is missing or
structurally altered. This
missing genetic material
affects development before
and after birth
QUESTIONS OR
ANY
CLARIFICATIO
NS?
