Genetic Study of Sitosterolemia

National Center for Research Resources (NCRR)

Overview

OBJECTIVES: 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.

Study Type

OBSERVATIONAL

Conditions

Lipid Metabolism, Inborn Errors Sitosterolemia

Interventions

genetic testingPROCEDURE

Eligibility

Sex: ALLMin age: 0 YearsHealthy volunteers:

Medical Language ↔ Plain English

PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- * 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 OR * Family member of patient with sitosterolemia OR * Normal volunteer

Locations (1)

Medical University of South Carolina

Charleston, South Carolina, United States

Data from ClinicalTrials.gov

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