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Comprehensive Investigation of Genetic Disorders and Gene Expression in Grade 12 Biology

Explore genetic disorders caused by mutations or gene expression abnormalities, including causes, effects on proteins, symptoms, detection, treatments, and ethical considerations, aligned with Grade 12 Biology curriculum.

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Investigating Genetic Disorders Assignment Questions Aligned with the Grade 12 Biology Competency Use information from secondary sources to investigate genetic disorders caused by mutations or abnormalities in gene expression. Secondary sources: textbooks, reputable health/genetics websites, review articles, educational videos, and government or university websites. Output: report, infographic, slide presentation, or concept map. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
Competency and Key Idea Competency: Use information from secondary sources to investigate genetic disorders caused by mutations or abnormalities in gene expression. Genetic disorders may result from: single-gene mutations chromosome abnormalities copy number changes changes in gene expression Reference guide: CDC — Genetic Disorders. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
A. Research Task Task Choose one genetic disorder from the list, or select another disorder approved by your teacher. Possible topics: 1. Sickle cell disease 2. Cystic fibrosis 3. Huntington’s disease 4. Tay-Sachs disease 5. Hemophilia 6. Down syndrome 7. Duchenne muscular dystrophy 8. Phenylketonuria 9. Thalassemia 10. Fragile X syndrome Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
B. Guide Questions — Part 1 Basic Information 1. What is the name of the genetic disorder you selected? 2. What body system or organ is mainly affected by the disorder? 3. What are the common signs and symptoms of the disorder? 4. Is the disorder inherited, spontaneous, chromosomal, or related to abnormal gene expression? Explain briefly. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
B. Guide Questions — Part 2 Mutation / Gene Expression 5. What gene or chromosome is affected in this disorder? 6. What type of genetic change is involved? Substitution, insertion, deletion, frameshift Chromosomal abnormality, gene expression abnormality, or other 7. How does the mutation or abnormality change the normal function of the gene? 8. Does the genetic change affect the protein made by the gene? If yes, how? 9. Is the protein absent, defective, shortened, overproduced, or underproduced? Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
B. Guide Questions — Part 3 Effect on the Organism 10. How does the altered gene or protein lead to the symptoms of the disorder? 11. How does the disorder affect the daily life of a person who has it? 12. Can the disorder be detected before birth, at birth, or later in life? Explain. 13. Are there treatments, therapies, or management strategies available? 14. Is there currently a cure? Why or why not? Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
B. Guide Questions — Parts 4 and 5 Part 4: Secondary Sources 15. What secondary sources did you use? List at least three. 16. Which source was the most helpful? Explain why. 17. How did you check if your sources were reliable? 18. Why is it important to use credible sources? Part 5: Critical Thinking 19. Why can a small DNA change cause a serious disorder? 20. Why do some mutations cause disease while others do not? 21. How can genetic disorders help scientists understand normal gene function? 22. What ethical concerns may arise from genetic testing or gene therapy? Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
C. Output Options Option 1: Written Report Prepare a 2–3 page report answering the guide questions. Option 2: Infographic Create a one-page visual showing the disorder, gene/chromosome, mutation, effect, symptoms, and treatment. Option 3: Slide Presentation Create a 5–7 slide presentation summarizing your findings. Option 4: Concept Map Show: DNA mutation/gene expression abnormality → gene function → protein function → cell effect → symptoms. Choose only one output format unless instructed otherwise. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
Concept Map Pathway DNA mutation / gene expression abnormality Gene function Protein function Cell effect Symptoms Use this pathway to explain how the genetic change affects the whole organism. Support each part of the pathway with information from credible secondary sources. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
D. Short Answer Questions — Set 1 Answer in complete sentences. 1. Define genetic disorder. 2. Differentiate mutation from abnormal gene expression. 3. Explain how a mutation can affect protein structure. 4. Explain how a mutation can affect protein function. 5. Why are frameshift mutations often more harmful than substitution mutations? Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
D. Short Answer Questions — Set 2 6. Give one example of a disorder caused by a single-gene mutation. 7. Give one example of a disorder caused by chromosomal abnormality. 8. Why is genetic counseling important for families with inherited disorders? 9. How can early detection help people with genetic disorders? 10. What is the role of secondary sources in scientific investigation? Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
E. Suggested Performance Task Prompt Research and present one genetic disorder caused by a mutation or abnormal gene expression. Explain how the genetic change affects the gene, protein, cells, and the overall condition of the person. Use at least three credible secondary sources and cite them properly. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
F. Rubric Overview 4 — Excellent: accurate, complete, clearly explained, well-supported, organized, and thoughtful. 3 — Satisfactory: mostly accurate, with minor errors or missing details. 2 — Developing: some correct information, but with gaps or limited explanation. 1 — Beginning: unclear, incomplete, inaccurate, or lacking credible sources. Main criteria: scientific accuracy, mutation/gene expression explanation, use of sources, organization, creativity/presentation, and critical thinking. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
F. Rubric Criteria Criteria What Excellent Work Shows Scientific Accuracy Information is accurate, complete, and clearly explained. Mutation/Gene Expression Clearly explains the genetic cause and its effect on protein function. Use of Secondary Sources Uses three or more reliable sources and cites them properly. Organization Output is well-organized and easy to understand. Creativity/Presentation Output is attractive, clear, and engaging. Critical Thinking Shows strong analysis connecting gene, protein, and symptoms. Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
G. Teacher’s Note Remind learners that genetic disorders can be caused by different kinds of genetic changes, including: changes in a single gene missing or extra DNA bases extra or missing chromosomes having more or fewer copies of a gene than usual Encourage students to cite sources properly and avoid relying on only one website. Suggested reference: CDC — https://www.cdc.gov/genomics-and-health/about/genetic- disorders.html Grade 12 Biology • Assignment: Genetic Disorders and Gene Expression
Submission Checklist Chosen genetic disorder is clearly identified. Gene/chromosome and type of mutation or abnormality are explained. Effect on protein/gene expression and symptoms is connected logically. At least three credible secondary sources are listed/cited. Reflection or critical-thinking answers are complete. Output follows one selected format: report, infographic, slides, or concept map. End of Presentation