MUTATION

-From the latin word “mutare”

means to change
COMMON MISTAKES IN
MUTATION
 MUTATION
When the code in a gene is changed, a different message may
result. Any change in the sequence of nitrogenous bases in the
DNA, any mistake in the transcription of genetic information
from DNA to RNA or pairing of the codon and anticodon, may
cause changes in the kind, sequence and number of amino
acids of proteins synthesized by cells. Changes in the protein
structure or level of expression may lead to changes in
cellular properties and behavior, as a result, the organism is
affected. Changes in the genes can occur for a variety of
reasons. Mutation may be induced by factors called
mutagens. Mutagens are commonly in the form of toxic
chemicals, and harmful radiation. Sometimes, mistakes occur
in DNA replication, mitosis, and meiosis. All of these can alter
the DNA sequence and length.
 MUTATION
Mutations can occur in two different types of cells:
reproductive cells and body cells. Only mutations
in sex cells pass on to offspring. Mutations affect
the reproductivecells of an organism by changing
thesequence of nucleotides within a gene ina
sperm or an egg cell. If these cells are fertilized,
then the mutated gene becomesa part of the
genetic make up of the offspring. If mutation is
severe, the resulting protein may be
nonfunctional,and the embryo may not develop.
MUTATION
 MUTATION
There are two types of mutations that can occur in
gamete cells:
• Gene mutation is a permanent change in the DNA
sequence that makes up a gene.
• Chromosomal mutation occurs at the
chromosome level resulting in gene deletion,
duplication or rearrangement that may occur
during the cell cycle and meiosis. It maybe caused
by parts of chromosomes breaking off or
rejoining incorrectly.
 MUTATION
Most mutations are harmful. Some
mutations in a body cell are known to
cause cancer, while mutations in sex cells
can cause birth defects. A severe mutation
may lead to cell death and may have no
effect on the body. Sometimes mutations
may be useful for the species. For
example, a mutation in blood proteins
prevents viruses or parasites to thrive in
host organisms.
 MUTATION
Consider what might happen if an incorrect amino
acid was inserted in a growing protein chain during
the process of translation. Do you think this will
affect the structure of the entire molecule? This can
possibly happen in point mutation where a change
in a single base pair occurs. Read the two sentences
below. What happens when a single letter in the
first sentence is changed?
THE DOG BIT THE CAT.
THE DOG BIT THE CAR.
 MUTATION
What will happen if a single base is deleted from a DNA
strand? You learned in Activity 3 and 4 that an mRNA
corresponds to a DNA sequence
translated by ribosomes into proteins. If the new sequence
with a deleted base was transcribed, then every codon after
the deleted base would be different. Deletion or insertion of
a base may change the reading frame of the codon leading to
frameshift mutation. Read again the two sentences below.
THE DOG BIT THE CAT.
THE DOB ITT HEC AT.
 CHROMIE CHANGE
A. TRANSLOCATION
 CHROMIE CHANGE
B. DELETION
 CHROMIE CHANGE
C. INVERSION
CHROMIE CHANGE-answer to guide questions
• Q24. Translocation occurs when a piece of
chromosome breaks off and attaches to another
chromosome. An inversion involves the breakage of
a chromosome in two places in which the resulting
piece of DNA is reversed and re-inserted into the
chromosome. Deletion refers to the loss of a
segment of DNA or chromosome.
Changes that affect the structure of chromosomes
can cause problems with growth, development, and
function of the body’s systems. These changes can
affect many genes along the chromosome and
disrupt the proteins made from these genes.
CHROMIE CHANGE-answer to guide questions
• Q25. The normal genetic content of the chromosome
may be affected. Many diseases are caused by the
effects of inherited genes. In most cases, there is only a
small difference between the DNA sequence in the
defective gene and a normal one. This difference is
enough to cause serious and often fatal diseases.
• Q26. Gain or loss of chromosome material results in
chromosomal mutations or aberrations; may also result
to Down’s syndrome, Klinefelter’s Syndrome, or Turner’s
Syndrome. However, Cri-du-chat Syndrome is due to
loss of chromosome.
• Q27. The possible effects of chromosomal mutations
are medical problems, problems on growth and
development, genetic disorders, and even death.
 CHROMIE CHANGE
Changes that affect the structure of chromosomes
can cause problems with growth, development, and
function of the body’s systems. These changes can
affect many genes along the chromosome and disrupt
the proteins made from these genes. Structural
changes can occur during the formation of egg or
sperm cells in fetal development, or in any cell after
birth. Pieces of DNA can
be rearranged within one chromosome or transferred
between two or more chromosomes.
 CHROMIE CHANGE

The effects of structural changes depend on their

size and location, and whether any genetic
material is gained or lost. Some changes cause
medical problems, while others may have no effect
on a person’s health. The gain or loss of
chromosome material can lead to a variety of
genetic disorders.
 CHROMIE CHANGE
(a) “Cri du chat” is caused by the
deletion of part of the short
arm of chromosome 5. “Cri du
chat”is French, and the
condition is so named because
affected babies make high-
pitched cries that sound like a
cat. Affected individuals have
wide-set eyes,a small head and
jaw, are moderately to
severely mentally
• retarded, and very short
DOWN SYNDROME (MONGOLOID)
 CHROMIE CHANGE
b) Down’s syndrome is usually
caused by an extra copy of
chromosome 21(trisomy
21). Characteristics include
decreased muscle tone,
stockier build, asymmetrical
skull, slanting eyes and
mild to moderate mental
retardation.
 CHROMIE CHANGE
(c) Edwards syndrome, which
is the second most common
trisomy after Down’ssyndrome,
is a trisomy of chromosome 18.
Symptoms include mental and
motor retardation and numerous
congenital anomalies causing
serious health problems. About
99% die in infancy. However,
those who live past their first
birthday, usually are quite
healthy thereafter. They have a
characteristic hand appearance
with clenched hands and
overlapping fingers.
 CHROMIE CHANGE
d) Jacobsen syndrome is also called terminal 11q
deletion disorder. This is a very rare disorder.
Those affected have normal intelligence or
mild mental retardation, with poor or
excessive language skills. Most have a
bleeding disorder called Paris-Trousseau
syndrome.
 CHROMIE CHANGE
d) Jacobsen syndrome is also called terminal 11q
deletion disorder. This is a very rare disorder.
Those affected have normal intelligence or
mild mental retardation, with poor or
excessive language skills. Most have a
bleeding disorder called Paris-Trousseau
syndrome.
 CHROMIE CHANGE
e) Klinefelter’s syndrome
(XXY). Men with this
condition are
usually sterile and tend to
have
longer arms and legs and
to be
taller than their peers.
They are
• often shy and quiet and
have a
higher incidence of speech
delay.
Klinefelter’s Syndrome
1. Testes are
usually small
2. Sperms are
not usually
developed
3. Mostly are
mentally
handicapped
4. Arms are
longer than
average
5. Breasts are
slight
developed
Klinefelter’s Syndrome
1. Testes are
usually small
2. Sperms are
not usually
developed
3. Breasts are
slight
developed
(f) Turner’s syndrome (X
instead of XX or XY). Female
sexual
characteristics are present
but
underdeveloped. They often
have a
short stature, low hairline,
abnormal
eye features and bone
development
and a “caved-in” appearance
to the
chest
TURNER’S SYNDROME
1. Affected individual is
female short, with
webbing of the neck
TURNER’S SYNDROME
2. Has broader chest
exhibit slightly mental
deficiency.
3. The breast, external
genital organ do not
develop
 karyotype
Some of the abnormalities associated with
chromosome structure and number can be
detected by a test called a karyotype. A karyotype is
an image of the full set of chromosomes of an
individual that displays the normal number, size,
and shape. Karyotypes may reveal the gender of a
fetus or test for certain defects through
examination of cells from uterine fluid – a
procedure called amniocentesis – or through
sampling of placental
Membranes.
KARYOTYPE OF HUMAN MALE & FEMALE
NORMAL HUMAN KARYOTYPE
Karyotype of a child having a Down-Syndrome
 TURNER’S SYNDROME
• A female with Turner syndrome (45,X).  Note
the characteristically broad, "webbed" neck. 
Stature is reduced, and swelling (edema) is
seen in the ankles and wrists.
Karyotypes of a child having a
Turner’s Syndrome
 KLINEFELTER’S SYNDROME
• Klinefelter syndrome is the most common
chromosomal disorder associated with male
hypogonadism (the problem is in testicles)
and infertility. It is defined classically by a
47,XXY karyotype with variants that
demonstrate additional X and Y
chromosomes.
 KLINEFELTER’S SYNDROME
• Have 44 autosomes and 3 sex chromosomes
 KEY CONCEPTS
A mutation is a change in the base sequence of DNA. Mutations may
affect only one gene, or they may affect whole chromosomes.
Mutations in eggs or sperm affect future generations by
transmitting
these changes to their offsprings. Mutations in body cells affect only
the individual and are not passed
on to the offspring. 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.
THANK YOU !!!