Genetic Study of Sitosterolemia
I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
|Study Design:||Observational Model: Natural History|
|Study Start Date:||November 1999|
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.
|United States, South Carolina|
|Medical University of South Carolina|
|Charleston, South Carolina, United States, 29425-0721|
|Study Chair:||Shailesh B. Patel||Medical University of South Carolina|