Embed Size (px)
Citation preview
List diseases that can be caused by mutations
What is a mutation and what can the effects be?
Cystic fibrosisSickle cell anaemia Tay-Sachs disease PhenylketonuriaColour-blindness
Cancers
http://io9.com/10-unusual-genetic-mutations-in-humans-470843733
Objectives
Explain the consequence of base substitution mutation using the example 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
What is a mutation and what can the effects be?
https://www.youtube.com/watch?v=4ksjojelnjY
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
What is a mutation and what can the effects be?
Task
Create a 2minute video outlining sickle cell anaemia.
It should include:What it isCauses
ProblemsAny 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
What is a mutation and what can the effects be?
TaskCreate a 2minute video outlining sickle cell
anaemia.
It should include:What it isCauses
ProblemsAny benefits
It needs to be in sufficient detail for IB biology.
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.
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
What is a mutation and what can the effects be?
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
What is a mutation and what can the effects be?
