Biology Year 12 - Module 8 - Lesson 7
Genetic Diseases — Cystic Fibrosis, PKU, Huntington's Disease, Type 1 Diabetes
1. Key Ideas
A single deleted amino acid in the CFTR protein fills a child's lungs with mucus. An expanded CAG trinucleotide repeat in the HTT gene produces a toxic polyglutamine protein that kills neurons for decades before any symptom appears. Every genetic disease tells the same story: one mutation, one altered protein, cascading consequences throughout the body.
- The gene, protein, and mechanism of disease for CF, PKU, Huntington's, and Type 1 diabetes
- Why a single amino acid change can abolish or dramatically alter protein function
2. Success Criteria
By the end, you should be able to:
- The gene, protein, and mechanism of disease for CF, PKU, Huntington's, and Type 1 diabetes
- The inheritance pattern (autosomal recessive or dominant) for each disease
- The specific consequences of each protein dysfunction at the organ/system level
3. Key Terms
4. Activity: Build the Lesson Map
Use the lesson to complete the table. Keep answers brief but specific.
| Prompt | Your answer |
|---|---|
| Main concept | |
| Important example | |
| Common mistake to avoid | |
| How this links to the next lesson |
5. Short Answer Questions
1. Explain this lesson goal in your own words: "The gene, protein, and mechanism of disease for CF, PKU, Huntington's, and Type 1 diabetes". Use one specific example from the lesson.
2. Apply this idea to a new example: "The inheritance pattern (autosomal recessive or dominant) for each disease". Show your reasoning clearly.
3. Analyse why this idea matters for understanding Genetic Diseases — Cystic Fibrosis, PKU, Huntington's Disease, Type 1 Diabetes: "The specific consequences of each protein dysfunction at the organ/system level".
6. Extend: Apply the Idea
A student gives a memorised answer about Genetic Diseases — Cystic Fibrosis, PKU, Huntington's Disease, Type 1 Diabetes but does not use evidence or reasoning.
Improve the answer by writing a stronger response that uses accurate terminology, a relevant example and a clear explanation.
7. Multiple Choice
1. What is the best first step when answering a question about Genetic Diseases — Cystic Fibrosis, PKU, Huntington's Disease, Type 1 Diabetes?
A. Identify the key concept being tested
B. Write every fact from memory
C. Ignore the command word
D. Skip examples and evidence
2. Which answer would show stronger understanding of Genetic Diseases — Cystic Fibrosis, PKU, Huntington's Disease, Type 1 Diabetes?
A. An answer with accurate terms and reasoning
B. A copied definition only
C. A single-word response
D. An answer with no example
3. What should you do if a question asks you to explain?
A. Link the idea to a reason or cause
B. List unrelated facts
C. Only draw a diagram
D. Write the shortest possible answer
8. Success Criteria Proof
Finish with evidence that you can do each success criterion.