Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families.

ABSTRACT: Familial hypercholesterolemia (FH) is a common inherited disorder of metabolism characterized clinically by high levels of low-density lipoprotein (LDL) in plasma owing to reduced catabolism. This leads to accelerated atherosclerosis and thus to an increased risk of coronary heart disease. FH is usually caused by defects in the gene for either the LDL receptor or apolipoprotein B (apoB), the ligand for the LDL receptor. Elsewhere, we have described two unrelated patients with phenotypic homozygous FH. Both patients were offspring of consanguineous unions, and linkage to either the gene for the LDL receptor or the gene for apoB was excluded in both. Their cells in culture do not degrade LDL, despite the presence of normal surface binding of LDL to the LDL receptor. This observation suggests

SUBMITTER: Eden ER 

PROVIDER: S-EPMC1274478 | biostudies-literature | 2001 Mar

REPOSITORIES: biostudies-literature