Name_________________________
Hypercholesterolemia Laboratory
1. Measure your gel results and place in the chart
Lane
Normal
FHC
Patient 1
Patient 2
Patient 3
Marker
Fragment 1
2
3
4
5
6
2. Graph your marker and determine the following information
a.
b.
c.
d.
What is the size of the fragment visible for normal?
What is the size of the fragment visible for the FHC control ?
Describe the test results
Normal- Homozygous for the normal allele
Abnormal - Heterozygous for the LDL receptor
Abnormal - Homozygous for the LDL receptor
Patient 1
Patient 2
Patient 3
3. Answer the following questions.
a.
b.
c.
d.
What is the function of cholesterol in cells?
Where is cholesterol synthesized?
What is the difference between LDL and HDL ?
What are the consequences of high levels of LDL cholesterol? Explain in detail the
molecular basis and then the clinical symptoms.
e. What are current therapies for high cholesterol? You can refer to the booklet or look
on line?
f. What are the differences in cholesterol levels between a person who is heterozygous
and one who is homozygous?
g. How are Restriction length polymorphisms used to analyze the DNA of affected
individuals?
h. What is PCR? How does PCR facilitate DNA analysis?