id author title date pages extension mime words sentences flesch summary cache txt work_uij5k5fbwbaudpdnt6u2272gp4 S B Patel Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21 1998.0 4 .pdf application/pdf 3759 424 59 from this disease have very elevated plasma plant sterol levels and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. By studying 10 well-characterized families with this disorder, we have localized the genetic defect to chromosome 2p21, between microsatellite atherosclerotic disease, absence of a family history of premature coronary artery disease, and normal to occasionally elevated plasma cholesterol levels (2). The plasma sitosterol levels in affected individuals, their obligate heterozygous parents, unaffected siblings (from all except Total plasma sterol levels in affected individuals may be very rare and the disease locus in pedigrees drawn from different racial backgrounds maps to the same region, the likelihood that mutations in different genes along a common metabolic pathway are responsible for causing the same or similar discordant gene regulation (24), and the plasma levels of cholesterol in many affected individuals with accelerated atherosclerosis are frequently not elevated (2, 3). ./cache/work_uij5k5fbwbaudpdnt6u2272gp4.pdf ./txt/work_uij5k5fbwbaudpdnt6u2272gp4.txt