List diseases that can be caused by mutations
Cystic fibrosis
Sickle cell anaemia
Tay-Sachs disease
Phenylketonuria
Colour-blindness
Cancers
http://io9.com/10-unusual-genetic-mutations-in-humans-470843733
Objectives
Outcomes
Explain the consequence of base
substitution mutation using the
example of sickle-cell anaemia
3: Describe what a mutation is an
how it may arise.
5: Explain what a mutation is and
possible consequences of one.
7: Explain mutation with specific
reference to sickle cell anaemia in
relation to the process of
transcription and translation.
https://www.youtube.com/watch?v=4ksjojelnjY
Key terms: sickle cell anaemia, mutation, substitution, amino acid
Task
Outcomes
Create a 2minute video outlining sickle cell
anaemia.
3: Describe what a
mutation is an how it
may arise.
It should include:
What it is
Causes
Problems
Any benefits
It needs to be in sufficient detail for IB biology.
5: Explain what a
mutation is and
possible consequences
of one.
7: Explain mutation with
specific reference to
sickle cell anaemia in
relation to the process
of transcription and
translation.
Key terms: sickle cell anaemia, mutation, substitution, amino acid
Task
Create a 2minute video outlining sickle cell
anaemia.
It should include:
What it is
Causes
Problems
Any benefits
It needs to be in sufficient detail for IB biology.
Outcomes
3: Describe what a
mutation is an how it
may arise.
5: Explain what a
mutation is and
possible consequences
of one.
7: Explain mutation with
specific reference to
sickle cell anaemia in
relation to the process
of transcription and
translation.
Key terms: sickle cell anaemia, mutation, substitution, amino acid
Sickle cell anemia
is a disease that
causes
erythrocytes to
lose their
biconcave disc
shape.
The cause of this lies in the gene that codes for the
hemoglobin gene
A substitution of one base (Adenine) for another (Thymine) in
the sequence of nucleotides of the DNA is transcribed and
translated into a sequence of amino acids
The original codon GAG becomes GTG. Instead of the translation of this
codon into the placement of the amino acid glutamic acid in the
polypeptide, valine is placed there instead.
Social issues
(Aim 8). If you
pass sickle cell
anemia on to
your children,
how might you
feel? How
would you feel
about
inheriting it?
Would you
consider
genetic
screening and
possible
abortion of an
unborn child
to determine
sickle cell
status?
But there is good news…
The frequency of sickle
cell anemia is correlated
with the prevalence of
malaria in many parts of
the world. In this case,
there is a clear causal link.
Natural selection has led
to particular frequencies
of the sickle-cell and the
normal hemoglobin alleles
to balance the twin risks
of anemia and malaria.
Explain the consequence of a base substitute
mutation in relation to the process of transcription
and translation, using sickle cell anemia as an
example.
1. What is sickle cell anaemia?
2. What is a base substitution mutation?
3. How does it relate to transcription and
translation?
4. Explain how sickle cell anaemia comes about.
5. Are there any advantages of sickle cell
anaemia?
Outcomes
3: Describe what a
mutation is an how it
may arise.
5: Explain what a
mutation is and
possible consequences
of one.
7: Explain mutation with
specific reference to
sickle cell anaemia in
relation to the process
of transcription and
translation.
Key terms: sickle cell anaemia, mutation, substitution, amino acid
Outcomes
3: Describe what a
mutation is an how it
may arise.
5: Explain what a
mutation is and
possible consequences
of one.
7: Explain mutation with
specific reference to
sickle cell anaemia in
relation to the process
of transcription and
translation.
Key terms: sickle cell anaemia, mutation, substitution, amino acid