I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for
genetic studies and may fill out a general health and medication history.
Linkage analysis and microsatellite screening is performed on genomic DNA, especially
chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.
Positive results may be reported to the patient and may influence future treatment.
PROTOCOL ENTRY CRITERIA:
- Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature
atherosclerotic disease No family history of premature coronary artery disease Normal
or elevated plasma cholesterol levels
- Family member of patient with sitosterolemia
- Normal volunteer