Part II
Renee's meeting with the doctor went well. He told her that although her cholesterol was currently high, it could be managed. However, the doctor was concerned that her high cholesterol could be familial hypercholesterolemia, a type of inherited disorder that leads to high cholesterol. After prescribing statins and counseling Renee on some lifestyle changes, the doctor referred Renee to a genetic counselor. Renee and Karl were both a mixture of relieved that the disease could be managed and concerned that it might be genetic.
What are statins? How do they function?
What is the inheritance pattern of familial hypercholesterolemia? Remember to cite your sources using APA Style.
If Renee has familial hypercholesterolemia, what is/are her possible genotype(s)?
Why might Renee and Karl be concerned that Renee's hypercholesterolemia might be genetic?
Part III
Renee met with the genetic counselor, Guillermo. Guillermo explained that they would first construct a pedigree. He asked Renee to list all her blood family members back to her grandparents and for each person mark whether he or she had had a myocardial infarction (i.e., heart attack) before 50 and/or high cholesterol.
Below is the information Renee listed. Use this to construct a pedigree. Any person with a heart attack before 50 and/or high cholesterol is considered affected.
Renee (self), High cholesterol
Sister, No history of either
Brother, High cholesterol
Father, Myocardial infarction at 45, died
Mother, No history of either
Maternal aunt, No history of either
Paternal uncle, High cholesterol
Paternal grandmother, High cholesterol and myocardial infarction at 49, 55, died
Paternal grandfather, No history of either
Maternal grandmother, No history of either
Maternal grandfather, High cholesterol
Based on the pedigree above and your knowledge of genetics, do you think Renee has an inherited form of hypercholesterolemia? Please support your answer.
If not genetic, is there another explanation for the prevalence of myocardial infarctions and high cholesterol in this pedigree? Please explain.