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
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