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Information About the Condition
A Summary of the Results of Lab Tests
Pedigree and Punnett Square Analysis
Prognosis and Treatment

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A Summary of the Results of Your Laboratory Testing

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A Summary of the Results of Your Laboratory Testing

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Sketch your finished gel with the stained DNA fragments. Clearly label each lane.

To determine the genotype of each patient, analyze the pattern of restriction fragments from the five patients, as follows:

homozygous normal for the LDL receptor (ff)

homozygous for the defective LDL receptor (FF)

heterozygous for the defective LDL receptor (Ff)

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Research familial hypercholesterolemia and note the pattern of inheritance as well as which chromosome is impacted.

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Write a paragraph or two that explains to Aki, in simple terms, what FH is and how it might affect members of his family who have the LDLR gene mutation that causes FH. Include average cholesterol levels for individuals with the mutated LDLR gene and discuss the dangers of high cholesterol.
Reminder: You learned about the relationship between cholesterol levels and heart disease in Activity 2.1.4. Refer to this information and complete additional research as needed.

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Write a brief statement identifying which of the family members are most at risk for having high cholesterol.

Describe treatment options for family members with FH. Be sure to include the class of medications called statins.

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Lane 1: Standard DNA Marker
Lane 2: Normal DNA Sample (ff)
Lane 3: FH Control (FF)
Lane 4: Changman, Aki's father
Lane 5: Jia, Aki's Sister
Lane 6: Aki
Lane 7: Justin, Aki's Brother-in-Law
Lane 8: Amy, Aki's niece

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Identify the Genotype and Phenotype of...
- Changman
- Jia
- Aki
- Justin
- Amy

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Note: If needed, refer to what you learned in the Pedigree and Punnett Square Practice resource to organize your pedigree and add proper shading.

Deduce the genotype of members of the Kim family who were not tested.

Draw a pedigree for familial hypercholesteremia in Aki’s family. Provide a key for the pedigree.