MUTATION AND

SUPPRESSOR
KATRINA [Link]
REPORTER
64 possible codons and 20 amino acids
What happens
if there is
alteration in
nucleotide
sequence?
 MUTATION

DEFINITION:

a change that occurs in our
DNA sequence, either due to
mistakes when the DNA .They
account for the variation we see
in human hair color, skin color,
height, shape, behavior, and
susceptibility to disease.
 Over a lifetime our DNA can
undergo changes or ‘mutations?’
in the sequence of base (A, C,
G and T).
 However, mutation can also

disrupt normal gene activity and

cause diseases
CAUSES OF
MUTATION
[Link] mutation are
inherited from a parent and are
present throughout a person’s
life in virtually every cell in the
body. These mutations are also
called germline mutations
because they are present in
the parent’s egg or sperm cells,
which are also called germ
cells.
2. Acquired (or somatic) mutations
-occur at some time during a
person’s life and are present only
in certain cells, not in every cell
in the body. These changes can
be caused by environmental
factors such as ultraviolet
radiation from the sun, or can
occur if an error is made as DNA
copies itself during cell division.
TYPES OF
MUTATION
POINT MUTATIONS
[Link] MUTATION

-is a point mutation that
changes a codon to indicate a
different amino acid. We call it
a missense mutation because
it causes the protein to be
incorrectly translated from the
original gene.
 AUG codes for methionine, CAA
codes for glutamine, UCA codes
for serine and GUU codes for
valine. And again, UGA is a stop
codon. Well, it's close to our
magikeratin polypeptide. But,
where proline was supposed to be
the second amino acid, we got
glutamine instead. So, our protein
is slightly off, and so are the
feathers in our pink-winged pony.
NONSENSE MUTATION
 It'sa point mutation that turns
one codon into a stop
codon(leading to a
nonfunctional protein)
 In other words, the chain

stops short, and the protein is

never completed.
 We'llswitch out this G for a
letter C. The resulting
mRNA will be changed by
one letter, so what will be
the resulting polypeptide?
AUG codes for methionine,
CCA codes for proline and
UGA codes for… wait,
that's a stop codon!
[Link] MUTATION
[Link]
occur when a nucleotide is
replaced with a different
nucleotide in the DNA sequence.
The most common substitutions
involve the switching of adenine
and guanine (A ↔ G) or cytosine
and thymine (C ↔ T).
 Transition: this occurs when
a purine is substituted with
another purine or when a
pyrimidine is substituted with
another pyrimidine.
 Transversion: when a purine

is substituted for a pyrimidine

or a pyrimidine replaces a
purine.
2.(e.g. ATG
becomes
ACG)
 SICKLE CELL ANEMIA
 The protein may lose its function, which
can result in a disease in the
[Link] example, sickle-cell
disease is caused by a single point
mutation (a missense mutation) in the
beta-hemoglobin gene that converts a
GAG codon into GUG, which encodes the
amino acid valine rather than glutamic
acid.
B. INSERTION
mutations in
which extra base
pairs are inserted
into a new place
in the DNA.
C. DELETION
are mutations in which a
section of DNA is lost, or
deleted. The number of
base pairs deleted can
again range from one to
thousands!
DiGeorge Syndrome or 22q11.2
deletion syndrome 
 is a disorder that involves many different
areas of the body and can vary greatly in
severity among people with the condition.
Signs and symptoms may include: cleft
palate, heart defects, recurrent
infections, unique facial characteristics,
feeding problems, kidney abnormalities,
hypoparathyroidism, thrombocytopenia,
scoliosis, hearing loss, developmental
delay, and learning disabilities.
 People with this condition are
also more likely to develop
certain autoimmune disorders
and personality disorders.
22q11.2 deletion syndrome is
caused by a deletion of a
small part of chromosome 22
near the middle of the
chromosome at a location
known as q11.2
asimilar error occurs at
the DNA level, causing
the codons to be parsed
incorrectly. This usually
generates truncated
proteins that are as
useless as "hef atc ats
at" is uninformative.
Cystic fibrosis (CF) is is an
inherited disorder that
causes severe damage to
the lungs, digestive system
and other organs in the
body. Cystic fibrosis affects
the cells that produce
mucus, sweat and digestive
juices.
[Link]
 (e.g. ATG becomes AGT)
 Generally considered to have
no harmful effects, but there
is some suspicion it could
lead to an increased risk for
miscarriage or infertility for
some affected individuals.
Frameshift Mutation
CHROMOSOME MUTATION

-Is any change or error that occurs within the

chromosome. Such errors can be attributed to
any mistakes or problems that occur during
cell processes like mitosis and meiosis.

-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.).
 KARYOTYPING
-Why get tested?
To detect chromosome
abnormalities, in order to
help diagnose genetic
diseases, some birth defects
and certain haematologic
and lymphoid disorders.
When to get tested?
 When pregnancy screening tests are abnormal;

when signs of a chromosomal abnormality-

associated disorder are present; when a specific
abnormality has been detected in a family
member; sometimes when a person has
leukaemia, lymphoma, myeloma, myelodysplasia
or another cancer and an acquired chromosome
abnormality is suspected
Sample required?
 A blood sample drawn from a vein in your arm; a

sample of amniotic fluid or chorionic villus from

a pregnant woman; a bone marrow or tissue
sample
DELETION
CRU DI CHAT SYNDROME
DUPLICATION(Charcot-Marie-
Tooth disease type I)
INVERSION
TRANSLOCATION
 DOWN SYNDROME
 Translocation Down syndrome refers to the
type of Down syndrome that is caused by
rearranged chromosome material. In this case,
there are three # 21 chromosomes, just like
there are in trisomy 21, but one of the 21
chromosomes is attached to another
chromosome, instead of being separate. In
translocation Down syndrome, the extra 21
chromosome may be attached to the #14
chromosome, or to other chromosome
numbers like 13, 15, or 22
KLINEFELTER SYNDROME
 alsoknown as 47,XXY or
XXY, is the set of
symptoms that result from
two or more X
chromosomes in males.
The primary features are
infertility and small
testicles.
TURNER SYNDROME
 isa chromosomal condition that
affects development in females.
The most common feature of
Turner syndrome is short stature,
which becomes evident by about
age 5. An early loss of ovarian
function (ovarian hypofunction or
premature ovarian failure) is also
very common.
 ISOCHROMOSOME
 is a mirror-image abnormal chromosome
consisting of two copies of either a short arm
or a long arm, often observed for X and
acrocentric (13, 14, 15, 21, and 22)
chromosome
 is a chromosome with two identical arms.
Instead of one long (q) arm and one short (p)
arm, an isochromosome has two long arms or
two short arms. As a result, these abnormal
chromosomes have an extra copy of some
genes and are missing copies of other genes
Isochromosome 18p (Tetrasomy 18p
Syndrome)
occurs as a
supernumerary marker
chromosome, with two
copies of the short arm
of chromosome 18,
resulting in tetrasomy
18p.
 Patients with i(18p) demonstrate a
recognizable phenotype characterized by low
birth weight, microcephaly, hypotonia,
camptodactyly or adducted thumbs and a
typical facial appearance. There is hypotonia
and feeding difficulties in the first year and
spasticity develops by the second year.
Intellectual disability in the moderate to
severe range is present in all individuals
studied. Some patients (about 50%) suffer from
seizures. Skeletal abnormalities including
scoliosis, kyphosis, hypoplasia of the iliac
wings, long narrow fingers and toes and rib
abnormalities are prevalent. Orthopedic
problems are a common issue among adult
patients.
 Dicentric Chromosome (DC)
Aberration
 Unlike normal chromosomes, which
have a single constriction point
(centromere), a dicentric chromosome
contains two centromeres. Dicentric
chromosomes result from the abnormal
fusion of two chromosome pieces, each
of which includes a centromere. These
structures are unstable and often
involve a loss of some genetic material
 When gamma radiation passes through
the body cells it interacts with the
various organelles present in the cell.
Each cell has a nucleus. Chromosomes
are present in the nucleus of the cell.
The interaction of radiation with these
chromosomes causes break in these
chromosomes. Generally the broken
pieces of the individual chromosome
join back and revert to the original
position. In the event of higher exposure
to radiation such breaks may occur in
more than one chromosome
RING CHROMOSOME
 usually occur when a chromosome breaks in
two places and the ends of the chromosome
arms fuse together to form a circular
structure. The ring may or may not include the
chromosome's constriction point
(centromere).
 -Many cancer cells also have changes in their
chromosome structure. These changes are
not inherited; they occur in somatic cells
(cells other than eggs or sperm) during the
formation or progression of a cancerous
tumor.
 SUPPRESSOR
-alleviates or
reverts the
phenotypic effects
of existing
mutations.
 TUMOR SUPPRESSOR GENE
-are normal genes that
slow down cell division,
repair DNA mistakes. If
don’t work properly cells
can grow out of control
which lead to cancer.
T53 gene(guardian genome)
Provides instructions for
making a protein [Link]
regulates the cell
divisionby keeping cells
from growing and
dividing too fast or in
uncontrolled way.

-located in the nucleus of
the cell throughout the
[Link] the DNA
becomes damaged such as
toxic chemicals ,radiations
or ultraviolet [Link]
protein plays a important
role whether the DNA will
be damaged or not.
Ifthe DNA can be
repaired ,p53 activates
other genes to fix the
[Link] keeps the
cell from dividing that
helps to prevent
development of tumors.
Retinoblastoma protein
 is
to prevent excessive cell
growth by inhibiting cell cycle
progression until a cell is ready to
divide. When the cell is ready to
divide, Rb is phosphorylated to
pRb inactivating the protein
which allows cell cycle
progression