In Search of the Cholesterol Gene

Coronary heart disease and stroke are major causes of death in the Western world. Elevated blood cholesterol levels are a serious risk factor for both conditions. The genetic disease familial hypercholesterolemia (FH) causes an increase in blood levels of the “bad” form of cholesterol, low-density lipoprotein (LDL). In untreated patients with the mutant FH gene, the condition can cause premature death. This experiment includes reagents for the colorimetric enzymatic reaction which is the basis of the clinical cholesterol test. In addition, using agarose gel electrophoresis, students will analyze a simulated genetic screening for a disease.