MUTATIONS
Prepared by: LILIBETH M. MAYOR
Why are they called mutants?
What causes albinism?
change in the sequence of
bases in DNA
MUTATION essential for evolution to occur
the ultimate source of all new
genetic material - new alleles -
in a species
Germline mutations occur in gametes.
These mutations are especially
significant because they can be
Major transmitted to offspring and every cell in
Categories of the offspring will have the mutation.
Mutation
Somatic mutations occur in other cells
of the body. These mutations may have
little effect on the organism because
they are confined to just one cell and its
daughter cells. Somatic mutations
cannot be passed on to offspring.
• Mutations can occur in germ-
line cells or somatic cells.
• Germ-line mutations occur in
reproductive cells (sperm or eggs)
and are passed to an organism’s
offspring during sexual
reproduction. Somatic mutations
occur in non-reproductive cells;
they are passed to daughter cells
during mitosis but not to offspring
during sexual reproduction.
MUTATION
Types of Gene Mutation
Point Frameshift
Mutation Mutation
Type Description Example Effect
mutated codon CAA (glutamine)
Silent codes for the → CAG none • a change in a single
same amino acid (glutamine) nucleotide in DNA.
mutated codon
codes for a CAA (glutamine)
• this type of
Missense
different amino → CCA (proline)
variable mutation is usually
acid less serious than a
mutated codon
CAA (glutamine) chromosomal
Nonsense is a premature usually serious
stop codon
→ UAA (stop) alteration.
• another name for
SUBSTITUTION
POINT MUTATIONS
(also a type of point mutation)
includes a deletion or insertion
of one or more nucleotides
that changes the reading frame
of the base sequence
❖Deletions remove
nucleotides
❖Insertions add nucleotides.
FRAMESHIFT MUTATIONS
POINT MUTATIONS
TYPES OF
MUTATIONS
EXAMPLE
CHROMOSOMAL Deletion: When a segment of DNA is lost, so there is
MUTATIONS a missing segment in the chromosome. These usually
result in many genes missing from the chromosome.
Duplication: When a segment of DNA is repeated,
creating a longer chromosome. These usually result
in multiple copies of genes in the chromosome.
Inversion: When a segment of DNA is flipped and
then reattached to the same chromosome.
Insertion: When a segment of DNA from one
chromosome is added to another, unrelated
chromosome.
Translocation: When two segments from different
chromosomes change positions.
• Unequal crossing-over during
meiosis.
• When homologous
chromosomes misalign during
meiosis, unequal crossing-over
occurs. The result is the
deletion of a DNA sequence in
one chromosome, and the
insertion of a DNA sequence in
the other chromosome.
CAUSES OF
MUTATIONS
What does radiation
contamination do?
• The Chernobyl disaster was a nuclear
accident that occurred on April 26, 1986. It is
considered the worst nuclear power plant
accident in history. A Russian publication
concludes that 985,000 excess cancers
occurred between 1986 and 2004 as a result of
radioactive contamination. The 2011 report of
the European Committee on Radiation Risk
calculates a total of 1.4 million excess cancers
occurred as a result of this contamination.
Causes of Mutation
TYPES OF
MUTAGENS
Environmental
Factors that
can cause
mutation
Sunlight • The ultraviolet (UV) rays in
sunlight cause the formation
of thymine dimer mutations,
which is when two thymines
on the same strand of DNA
bond together instead of
correctly bonding with
adenines on the opposite
strand.
• This can cause mutations
when making a copy of DNA
for the next generation of
cells.
Spontaneous
Mutation
arise from a variety of
sources, including
errors in DNA
replication,
spontaneous lesions,
and transposable
genetic elements.
Spontaneous Mutations
Mutation Description
Tautomerism a base is changed by the repositioning of a hydrogen atom
Depurination loss of a purine base (A or G)
Deamination spontaneous deamination of 5-methycytosine
a purine to purine (A to G, G to A), or a pyrimidine to pyrimidine (C to
Transition
T, T to C) change
Transversion a purine becomes a pyrimidine, or vice versa
To confirm your diagnosis
WHY IS IT SO
IMPORTANT
To enable testing of family
TO KNOW members
YOUR
MUTATION?
To determine what mutation-
specific therapies may benefit you
EFFECTS OF
MUTATIONS
Is this rat
hairless?
NEUTRAL MUTATIONS
Most mutations have They are neutral Many other mutations
neither negative nor because they do not have no effect on the
positive effects on the change the amino organism because
organism in which acids in the proteins they are repaired
they occur. they encode. before protein
synthesis occurs.
Fruit flies
Example Example: Coloration
Most fruit flies naturally have light tan bodies, however,
there exist mutant phenotypes with brighter coloring;
nearing yellow, or darker coloring; nearing black. These
mutations do not appear to reduce or increase fitness,
thus they are non-silent, non-neutral mutations.
BENEFICIAL MUTATIONS
They lead to new versions of
They have a positive effect on
proteins that help organisms
the organism in which they
adapt to changes in their
occur.
environment.
They are essential for evolution
to occur. They increase an
organism’s changes of surviving
or reproducing, so they are
likely to become more common
over time.
Mutations in many bacteria that allow them to
survive in the presence of antibiotic drugs. The
mutations lead to antibiotic-resistant strains of
Examples of bacteria.
Beneficial
A unique mutation is found in people in a small
Mutations town in Italy. The mutation protects them from
developing atherosclerosis, which is the
dangerous buildup of fatty materials in blood
vessels. The individual in which the mutation
first appeared has even been identified.
• any random change in a gene's DNA is likely to result
in a protein that does not function normally or may
not function at all.
HARMFUL
MUTATIONS • may cause genetic disorders or cancer.
✓A genetic disorder is a disease caused by a mutation
in one or a few genes.
✓Cancer is a disease in which cells grow out of control
and form abnormal masses of cells. It is generally
caused by mutations in genes that regulate the cell
cycle. Because of the mutations, cells with damaged
DNA are allowed to divide without limits. Cancer
genes can be inherited.
• DNA Repair Pathway. This
flow chart shows one way that
damaged DNA is repaired in E.
coli bacteria.
GENETIC
MUTATION
DISORDERS
Types of DNA Mutations and Their Impact
Human Disease(s) Linked to This
Class of Mutation Type of Mutation Description
Mutation
One base is incorrectly added during replication and replaces the pair
Substitution Sickle-cell anemia
in the corresponding position on the complementary strand
One or more extra nucleotides are inserted into replicating DNA,
Point mutation Insertion One form of beta-thalassemia
often resulting in a frameshift
One or more nucleotides is "skipped" during replication or otherwise
Deletion Cystic fibrosis
excised, often resulting in a frameshift
Inversion One region of a chromosome is flipped and reinserted Opitz-Kaveggia syndrome
A region of a chromosome is lost, resulting in the absence of all the
Deletion Cri du chat syndrome
genes in that area
Chromosomal
mutation A region of a chromosome is repeated, resulting in an increase in
Duplication Some cancers
dosage from the genes in that region
A region from one chromosome is aberrantly attached to another
Translocation One form of leukemia
chromosome
Gene amplification The number of tandem copies of a locus is increased Some breast cancers
Copy number
variation Expanding trinucleotide Fragile X syndrome, Huntington's
The normal number of repeated trinucleotide sequences is expanded
repeat disease
Achondroplasia
• caused by a gene alteration
(mutation) in the FGFR3 gene.
The FGFR3 gene makes a
protein called fibroblast
growth factor receptor 3 that
is involved in converting
cartilage to bone
• short stature with
disproportionately short arms
and legs, short fingers, a large
head (macrocephaly) and
specific facial features with a
prominent forehead (frontal
bossing) and mid-face
hypoplasia.
Cri du chat syndrome • also known as 5p- syndrome
and cat cry syndrome -caused
by the deletion (a missing
piece) of genetic material on
the small arm (the p arm) of
chromosome 5. The cause of
this rare chromosomal
deletion is unknown.
• high-pitched cat-like cry,
mental retardation, delayed
development, distinctive
facial features, small head
size (microcephaly), widely-
spaced eyes (hypertelorism),
low birth weight and weak
muscle tone (hypotonia) in
infancy.
• caused by an alteration (mutation) in a gene,
called the DMD gene that can be inherited in
families in an X-linked recessive fashion, but it
often occurs in people from families without a
known family history of the condition.
• There is progressive muscle weakness of the legs
and pelvic muscles, which is associated with a
loss of muscle mass (wasting). This muscle
weakness causes a waddling gait and difficulty
climbing stairs. Muscle weakness also occurs in
the arms, neck, and other areas, but not as
severely or as early as in the lower half of the
body.
CYSTIC FIBROSIS • CF is caused by a mutation (change)
in a gene called the cystic fibrosis
transmembrane conductance
regulator (CFTR) gene. This gene
helps control salt and water in the
cells and affects the production of
mucus, sweat and digestive fluids.
• People with CF develop a lot of very
thick and sticky mucus in their
lungs, airways and the digestive
system. They have problems
digesting food and experience
repeated lung infections, which can
permanently damage their lungs.
• They may also have lung damage,
malnutrition, poor growth and
diabetes. Almost all men and most
women with cystic fibrosis are
infertile.
• a person’s FMR1 gene has been
Fragile X syndrome changed by the Fragile X mutation,
they are said to either have the full
mutation, or a pre-mutation.
• Girls and women are usually less
affected than boys and men. A
person may be fully affected by
Fragile X but not show all these
signs below:
• intellectual disability, slow
development and difficulties with
communication, coordination,
motor skills and learning
• behavioral and emotional features
such as aggression, anxiety,
shyness and repetitive speech
• physical symptoms such as weak
muscles and joints, a heart
murmur and a high palate
Prader-Willi syndrome (PWS) •
•
caused by missing genes on chromosome 15
insatiable appetite, leading to excessive weight gain if
not controlled
• being short for their age
• small hands and feet
• mild intellectual disability
• poor social and emotional skills
• behavioral problems, such as mood swings
• distinctive facial features (including a narrow bridge of
the nose, a high and narrow forehead, a thin upper lip
and downturned mouth, almond-shaped eyes, and
eyes that look in different directions)
• undescended testes and small genitalia in boys
• irregular or no periods in girls
• higher tolerance of pain
• light skin and hair compared with other people in the
family
• very flexible muscles
• curved spine (scoliosis)
• inherited in an
Sickle Cell Anemia autosomal recessive
pattern, which means
that both copies of the
gene in each cell have
mutations.
• The parents of an
individual with an
autosomal recessive
condition each carry one
copy of the mutated
gene, but they typically
do not show signs and
symptoms of the
condition.
• caused by a genetic
Tay–Sachs disease mutation in the HEXA gene
on chromosome 15, which
codes for a subunit of the
hexosaminidase enzyme
known as hexosaminidase
A
• caused by the absence of
an enzyme that helps
break down fatty
substances. These fatty
substances, called
gangliosides, build up to
toxic levels in the child's
brain and affect the
function of the nerve cells.
Color blindness
• occurs when you are unable
to see colors in a normal
way. It is also known as color
deficiency.
• happens when someone
cannot distinguish between
certain colors, greens and
reds, and occasionally blues.
Huntington's disease (HD)
• is a progressive brain
disorder caused by a
defective gene.
• causes changes in the
central area of the brain,
which affect movement,
mood and thinking skills.
Opitz-Kaveggia syndrome
• is a rare cause of X-linked
intellectual disability and
associated anomalies in
males due to a mutation in
the MED12 gene located at
chromosome Xq13.
Beta-thallasemia
• Thalassemia is an inherited blood disorder in
SYMPTOMS which the body makes an abnormal form of
hemoglobin. Hemoglobin is the protein molecule in
bone deformities, especially in the face
red blood cells that carries oxygen.
dark urine
delayed growth and development • The disorder results in excessive destruction of
excessive tiredness and fatigue red blood cells, which leads to anemia
yellow or pale skin
DOWN SYNDROME • 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.
Klinefelter Syndrome
• Klinefelter syndrome is a
genetic condition that
results when a boy is
born with an extra copy
of the X chromosome.
Turner Syndrome
• a condition that affects
only females, results when
one of the X chromosomes
(sex chromosomes) is
missing or partially
missing.
Edwards’ Syndrome
It has 3 copies of part or all of chromosome 18, instead of the usual 2 copies. It is also called Trisomy 18.
Patau’s Syndrome
• a serious rare genetic
disorder caused by having
an additional copy of
chromosome 13 in some
or all the body's cells. It's
also called Trisomy 13.
Thank you
and God
bless!
