Familial Hypercholesterolemia


Curriculum Link > Biology 12

Protein Synthesis

  • Explain how mutations in DNA affect protein synthesis

What is the case study about?
In this case study, students will analyze a pedigree to uncover a family’s history and susceptibility to FH.  Students will also determine the genotype of family members and the inheritance pattern of the disease as they answer the questions in the case study.

Using the case study in the classroom

  • This case study requires background knowledge of pedigree charts, (dominant) inheritance, effects of cholesterol, and mutations.
  • This case study can be used to enrich the Biology 12 curriculum.  It can also be used with the IB (International Baccalaureate) and AP (Advanced Placement) Biology curricula.
  • Students can complete the case study independently.  This could be carried out as a classroom or homework activity.
  • Students can also work in pairs to complete their case study.  
    • Note: If you are planning to have students complete other case studies found on this website, you can always assign student pairs different cases.  This will allow student pairs to focus on their own case study and then learn about the other cases when they are presented by their peers.
  • This case study could also be used as a preview activity for a larger project.
    • For example, students may do a research project on FH or on the potential genetic links and causes of heart attacks.


Helpful Links
For additional information on familial hypercholesterolemia, visit the National Human Genome Research Institute’s website.  Go to www.genome.gov/25520184 to obtain more background information on the disease.

Additional Resources
For additional information on dominant inheritance, check out our article called “Dominant Inheritance” found in the articles sections of this website.

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