Mutations

Mutations are random changes in an organism's DNA that can be harmful and occur spontaneously or due to environmental factors. They can affect single genes or entire chromosomes, leading to various types such as point mutations, frameshift mutations, deletions, inversions, translocations, and duplications, each with specific examples and consequences. Conditions like cri-du-chat syndrome and hemophilia A illustrate the impact of chromosomal mutations on health and development.

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Mutations

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MUTATIONS

- are random changes that occur in

an organisms’s genetic information
or DNA that can suddenly appear.
-are often harmful.
-occur spontaneously and for no
apparent reasons.
Ex. error in replication
MUTATIONS
- result when genes move from one
location to another, or they can be
caused by factors in the
environment.
MUTATIONS
- Few genes are mobile and can jump IN
and OUT of chromosomes. This jumping
gene is referred to as TRANSPOSONS.

TRANSPOSONS- are segments of DNA

that may move from place to place
within a chromosome or even to entirely
different chromosomes.
MUTATIONS
It can affect a single gene or many
genes in the entire chromosome.

In a gene mutation, only one gene is

affected. This kind of mutation can
be classified as a POINT MUTATION,
wherein one nucleotide is
substituted for another.
MUTATIONS
It can affect a single gene or many
genes in the entire chromosome.

FRAMESHIFT MUTATION which

involves the insertion or deletion of
a nucleotide in the DNA sequence.
MUTATIONS
POINT MUTATION
may result in premature stop
codons or amino acids, with very
different properties from the
correct amino acid, or disrupt a
regulatory DNA sequence, which
may result in a completely altered
protein or a premature stop codon.
CHROMOSOME
MUTATIONS
A change in the DNA sequence means a
change in the information that the DNA of
an organism carries.

Once a sequence in a DNA molecule has

been altered, the mRNA that can be
transcribed will change as well.
CHROMOSOME
MUTATIONS
It may also change the amino acid sequence
that can be translated.
Radiation and other environmental agents
such as X-rays and ultraviolet rays, certain
food additives, drugs, and toxic chemicals
that cause mutations are called mutagens.
CHROMOSOME
MUTATIONS
There are several ways in which
chromosomes can be changed.

DELETION involves the loss of a piece of

chromosome or a break of the DNA
molecule.
Ex. cri-du-chat syndrome
CHROMOSOME
MUTATIONS
DELETION
Ex. cri-du-chat syndrome
It is a disorder known as chromosome 5p deletion
syndrome. The cry of affected infants is similar to
that of a cat’s cry (high oitched cry) due to
problems with their voice box and nervous
system.
-have small head and flattened bridge of the nose
CHROMOSOME
MUTATIONS

cri-du-chat syndrome
-5p monosomy
-low birth weight
-slow growth
-low-set or abnormally shaped ears
-mental retardation
-partial webbing or fusing of fingers or toes
-single line in the palm of the hand
CHROMOSOME
MUTATIONS
cri-du-chat syndrome
-slow or incomplete development of motor
skills
-small head, small jaw, wide-set eyes
-difficulty in breathing and swallowing
-few children lose the cry after the age of 2,
but still have trouble with speech and
movement.
-congenital heart disease
Karyotype of cri du
chat syndrome
CHROMOSOME
MUTATIONS
INVERSION
• It occurs when a part of the DNA
segment within the chromosome change
in direction.
• Ex. Hemophilia A
CHROMOSOME
MUTATIONS
INVERSION
• Ex. Hemophilia A, bleeding disorder
caused by factor VIII deficiency , is a
result of the rearrangement (inversion)
of a section of the long arm of the X
chromosome.
CHROMOSOME
MUTATIONS
• It involves the entire chromosome
affecting many genes. In this kind of
mutation, translocation and gene
duplication occurs.
CHROMOSOME
MUTATIONS
TRANSLOCATION
• It happens when a piece of one
chromosome moves to a
nonhomologous reciprocal
chromosome.
CHROMOSOME
MUTATIONS
TRANSLOCATION
• can cause problems such as cancer,
lymphomas, myelomas, and
leukemia. In leukemia, the broken
end of chromosome 9 fused with the
broken end of chromosome 22.
CHROMOSOME
MUTATIONS
DUPLICATION
• Occurs when gene
sequences have been
repeated several to many
times.
• Ex. Charcot-Marie-Tooth
disease
CHROMOSOME
MUTATIONS
CHROMOSOME
MUTATIONS
DUPLICATION
• Ex. Charcot-Marie-Tooth
disease
• This genetic disorder is a
result of the duplication of
a large region on the short
arm chromosome 17.
TAC ACC TTG GCG ACG ACT
mRNA transcript:

Amino acids:

Mutated DNA TAC ATC TTG GCG ACG ACT

sequence #1
mRNA transcript(circle
any changes)

amino acids:
TAC ACC TTG GCG ACG ACT
mRNA transcript:
AUG UGG AAC CGC UGC UGA

Amino acids: