1. 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

2. 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 https://www.youtube.com/watch?v=4ksjojelnjY

3. 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 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.

4. 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 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.

5. Sickle cell anemia is a disease that causes erythrocytes to lose their biconcave disc shape.

6. 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.

9. 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?

10. But there is good news…

11. 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.

12. 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 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?

13. 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