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DNA Mutations and Their Effects

The document explains the process of protein synthesis, which involves transcription and translation, and how mutations can occur during this process due to errors in DNA replication or environmental factors. It describes different types of mutations, including point mutations and frameshift mutations, and their potential effects on health, such as sickle cell anemia and cystic fibrosis. Mutagens, which are agents that cause DNA alterations, are also discussed as factors that can lead to permanent mutations.

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Desiree Dominguez
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21 views17 pages

DNA Mutations and Their Effects

The document explains the process of protein synthesis, which involves transcription and translation, and how mutations can occur during this process due to errors in DNA replication or environmental factors. It describes different types of mutations, including point mutations and frameshift mutations, and their potential effects on health, such as sickle cell anemia and cystic fibrosis. Mutagens, which are agents that cause DNA alterations, are also discussed as factors that can lead to permanent mutations.

Uploaded by

Desiree Dominguez
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Mutation

Protein Synthesis
The DNA is used to complete the process of
protein synthesis. Protein synthesis has two
stages which are called transcription and
translation. During protein synthesis at the
ribosome, messenger RNA sequences are
read and translated into amino acids.
These amino acids will form proteins
Mutation
These amino acids are specified
by codons carried by mRNA. If the
mRNA is copied incorrectly during
transcription stage, there will be
an anomaly in the genes. This is
called mutation.
Mutation
A mutation is a change that occurs in
our DNA sequence, either due to mistakes
when the DNA is copied or as the result of
environmental factors such as UV light
and cigarette smoke. Mutation occurs
during DNA replication, thus
transcription into mRNA is anomalous.
Mutation
Mutations 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
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
organism to repair the damage. Examples
of mutagens are radioactive substances,
x-rays, ultraviolet radiation, and certain
chemicals or drugs.
Different Types
of Mutations
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. There
are three types of substitution
mutation. These are
nonsense, missense and silent
mutation.
Point Mutation
Silent mutation
happens when a nitrogenous base
is altered but the same amino acid
is produced. Remember, many
codons can code for the same
amino acid. Example: GGC and GGU
can both code for glycine. If C is
changed to an U, the same amino
acid will be produced and therefore,
the amino acid will not be changed
Silent mutation
frameshift mutation.
Frameshift mutation 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.
frameshift mutation
What happens when a
person has mutated genes?
This can lead to inherited disorders. One of
the most common disorders is the sickle
cell anemia. This type of anemia is caused
by a recessive disorder through a single
substitution mutation in the gene that is
responsible for hemoglobin production.
Hemoglobin is known for carrying oxygen in
the blood
Sickle Cell Anemia

These cells cannot properly carry


oxygen. Sickle cell anemia’s
symptoms are anemia, pain crises
and frequent infections. It can be
managed with prescription drugs,
folic acid, bone marrow transplants,
and blood transfusions.
Cystic Fibrosis
It is a recessive inherited disorder.
Although there are many
different mutations that can
cause cystic fibrosis, deletion
mutation is the most common
cause. This causes an incorrect
protein.
Down syndrome or Trisomy 21
It is related with slight retardation of
cognitive ability. It is also
characterized with impairment of
physical growth, body and facial
features. Down syndrome is caused
by a translocation during meiosis
that transfers most of
chromosome 21 onto chromosome

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