GOOD

MORNING
Answer:

A. Transcription
E. mRNA links to ribosome
B. tRNA – amino acid units link to mRNA
C. Amino acid separate from tRNA
F. Stop codon encountered in mRNA
D. Polypeptide chain assembled
 GENETIC
MUTATIONS
OBJECTIVES
a. identify the different types of mutations;

b. give the importance of maintaining the

integrity of DNA sequences and the
potential consequences of mutations in
cellular functions ; and

c. demonstrate the difference between

normal and mutated DNA sequences.
Guess Who?
 Causes
Mutation may be induced by
factors called mutagens.
Mutagens in the form of toxic
chemicals, and harmful
radiation.
Mutation can occur in different
types of cell
 Somatic mutation
- occurs in the non-reproductive cells (somatic
cells) of an organism, such as skin, muscle, or liver
cells. These mutations are not inherited and cannot
be passed on to offspring.

- They may affect the individual organism in which

they occur, potentially leading to conditions like
cancer or other genetic disorders, but they are not
transmitted to the next generation.
 Germline mutation
- occurs in the reproductive cells (sperm or
egg cells). These mutations are passed on to
offspring and can be inherited.

- Mutations affect the reproductive cells of an

organism by changing the sequence of nucleotides
within a gene in a sperm or an egg cell. If these
cells are fertilized, then the mutated gene
becomes a part of the genetic makeup of the
offspring.
If mutation is severe, the resulting
protein may be nonfunctional, and
the embryo may not develop. There
are two types of mutations that can
occur in gamete cells:
 Germline mutation
- occurs in the reproductive cells (sperm or
egg cells). These mutations are passed on to
offspring and can be inherited.

- Mutations affect the reproductive cells of an

organism by changing the sequence of nucleotides
within a gene in a sperm or an egg cell. If these cells
are fertilized, then the mutated gene becomes a
part of the genetic makeup of the offspring.
 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 is maybe caused by parts of

chromosomes breaking off or rejoining
incorrectly.
Original (normal) DNA sequence:

1 2 3 4 5 6 7 8 9 10 11 12

TAC-TTA-TGC-CGA

1. mRNA
2. Amino acid chain
Original(normal) DNA sequence:

1 2 3 4 5 6 7 8 9 10 11 12

TAC-TTA-TGC-CGA
Mutant DNA:

1 2 3 4 5 6 7 8 9 10 11 12

TAC-TAA-TGC-CGA
1. mRNA
2. Amino acid chain
3. The type of mutation is ______
(substitution, deletion, insertion).
Original (normal) DNA sequence:

1 2 3 4 5 6 7 8 9 10 11 12

TAC-TTA-TGC-CGA
Mutant DNA:
1 2 3 4 5 6 7 8 9 10 11 12

TAC-TTA-TTG-CCG-A
1. mRNA
2. Amino acid chain
3. The type of mutation is _____
(substitution, deletion, insertion).
 Duplication Translocation Inversion Deletion Insertion

1. Inversion 2. Duplication 3. Insertion 4. Deletion 5. Translocation

Types of Gene Mutation
1. Base Substitution
 a. Nonsense Mutation
- occurs when one nucleotide
is substituted and this leads
to the formation of a stop
codon instead of a codon
that codes for an amino acid.
 a. Nonsense Mutation
Original Sequence:
AUG UGG AAC CGC UGC UGA
Met –Trp –Asn –Arg –Cys –[stop]

AUG UAG AAC CGC UGC UGA

Met – [stop]
Nonsense Mutation
 b. Silent Mutation
- a nucleotide is
substituted but the same
amino acid is produced
 b. Silent Mutation
Original Sequence:
AUG UGG AAC CGC UGC UGA
Met –Trp –Asn –Arg –Cys –[stop]

AUG UGG AAU CGC UGC UGA

Met – Trp –Asn – Arg –Cys – [stop]
Silent Mutation
 c. Missense Mutation
- occurs when one nucleotide is
substituted and a different
codon is formed that produces
a different amino acid.
 c. Missense Mutation
Original DNA Sequence:
AUG UGG AAC CGC UGC UGA
Met –Trp –Asn –Arg –Cys –[stop]

AUG UGG AAA CGC UGC UGA

Met – Trp – Lys –Arg – Cys –[stop]
Missense Mutation
 2. Insertion Mutation
- changes the DNA sequence by
adding one or more nucleotides
to the gene. This can shift the
reading frame and affect the
resulting protein.
 2. Insertion Mutation
Original Sequence:
AUG UGG AAC CGC UGC UGA
Met –Trp –Asn –Arg –Cys –[stop]

AUG CUG GAA CCG CUG CUG A-

Met – Trp - Asn - Arg - Cys–-
Insertion Mutation
 3. Deletion Mutation
- occurs when a base pair is
deleted from a sequence. It
may result in a frameshift or
loss of genetic information.
 3. Deletion Mutation
Original Sequence:
AUG UGG AAC CGC UGC UGA
Met –Trp –Asn –Arg –Cys –[stop]

AUG UGG AAC CCU GCU GA-

Met – Trp –Asn – Pro – Ala ---
Deletion Mutation
Chromosomal mutation
- changes the chromosome structure.
It occurs when a section of a
chromosome breaks off and rejoins
incorrectly or does not rejoin at all
Types of Chromosomal
mutation
 Insertion
- occurs when a portion of one
chromosome has been deleted from
its normal place and inserted into
another chromosome.
 Duplication
- a type of mutation that involves
the production of one or more
copies of a gene or region of a
chromosome.
 Deletion
- a type of mutation
involving the loss of
genetic material.
 Inversion
- a chromosome rearrangement in
which a segment of a chromosome is
reversed end to end. An inversion occurs
when a single chromosome undergoes
breakage and rearrangement within
itself.
 Inversion

A mutation where a segment of

the DNA sequence is reversed or
flipped within the same position.
 Translocation
- occurs when chromosome segments,
and the genes they contain, change
positions. Translocation can occur
within a chromosome
(intrachromosomal) or between
chromosomes (interchromosomal).
 Translocation
A mutation where a segment of
DNA is moved from one part of
the chromosome to another part
or even to a different
chromosome.
Karyotype
 Karyotype
- is an image of the full set of
chromosomes of an individual
that displays the normal
number, size, and shape.
 Disorders Caused by
Chromosomal Mutation
 Cri du chat
- 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.
 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.
 Edwards syndrome
- which is the second most common
trisomy after Down’s syndrome, is a
trisomy of chromosome 18. Symptoms
include mental and motor retardation
and numerous congenital anomalies
causing serious health problems.
 Edwards syndrome
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.
 Jacobsen syndrome
- is also called terminal 11 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.
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.
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.