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Mutation
Mutation
are changes to a DNA sequence. Just
like the information in DNA
as a group of sentences, mutations are
mistakes in spelling of the words that
form those sentences.
•Mutagens are
agents that
cause alteration
in the DNA and
can lead to
permanent
mutations in the
DNA sequence
depending on the
ability of an
Examples of
mutagens are
radioactive
substances, x-
rays,
ultraviolet
radiation, and
certain chemicals
or drugs.
Examples of mutagens are radioactive substances, x-rays,
ultraviolet radiation, and certain chemicals or drugs.
Different types of mutations:
POINT Mutation
Different types of mutations:
FRAMESHIFT mutation
POINT Mutation
It is the type mutation in DNA or
RNA wherein one single nucleotide
base is deleted, added or altered.
This can lead to substitution
mutation.
1) Nonsense mutation results
in the formation of a stop
codon due to the
substitution of one
nitrogenous base.
2) When one nitrogenous base of
the DNA is replaced and the
result is an
altered codon but does not form
a stop codon, it is classified as
missense
mutation.
Missense mutation
Conservative mutation: When the new
amino acid formed has the same
properties of the one that was supposed
to be produced.
Non-conservative: When the new amino
acid formed has different properties of the
one that was supposed to be produced.
3) Silent mutation happens
when a nitrogenous base is
altered but the
same amino acid is produced
Second gene mutation is the
frameshift mutation.
Second gene mutation is the
frameshift mutation.
It happens when the normal sequence of
codons is disorganized by the insertion or
deletion of one or more nitrogenous bases,
given that the number of nitrogenous
bases added or deleted is not a multiple of
three.
Chromosome
• Thread-like
structures
located inside
the nucleus of
animal and
plant cells.
Each
chromosome is
made of
protein and a
single
molecule of
Chromosomal
mutations
1.
Deletion-
happens
when a base
is deleted
from the
nitrogen
base
sequence.
2. Duplication – occurs
when a part of a
chromosome is copied
(duplicated) too
many times. This type
of chromosomal
change results in
extra copies of genetic
material from the
duplicated segment.
3. Inversion -
when a
segment of a
chromosome is
reversed end to
end.
4. Insertion- the
addition of one
or more
nucleotide base
pairs into a
DNA sequence.
5.
Translocation-
segments of
two
chromosomes
are exchanged.
What happens when a person has
mutated genes?
Sickle
cell
anemia
• Is caused by a
recessive
disorder through
a single
substitution
mutation in the
gene that is
responsible for
hemoglobin
production.
-valine substitutes
glutamic acid
Sickle cell
anemia’s
symptoms are
anemia, pain
crises
and frequent
infections.
Albini
sm
•is an autosomal recessive
disorder in which the
formation of melanin is
reduced or absent in skin,
hair, and eyes due to the
lack of activity of
tyrosinase. This is caused
by the deletion of the
-deletion
Albini
sm
Cystic Fibrosis
-deletion
mutation is the
most common
cause.
-It affects the cystic
fibrosis
transmembrane
conductance regulator
(CFTR) gene that leads
to the deletion of the
amino acid
phenylalanine.
Down syndrome or Trisomy 21
-caused by a translocation
during meiosis that transfers
most of chromosome 21
Normal set of chromosomes in
human
Down Syndrome set of chromosomes
in human
Genetic Mutations Chromosomal and DNA Mutations

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Genetic Mutations Chromosomal and DNA Mutations