Abstract
Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH. Low density lipoprotein receptor plays a key role in regulating plasma low density lipoprotein cholesterol (LDL-C) levels in human. In the present study we identified a novel polymorphism 24400 G > C in a Libyan HF patient. Genotypes of the LDLR 24400 G > C polymorphism were determined via Polymerase Chain Reaction (PCR) and gel electrophoresis, and then confirmed by direct DNA sequencing. This study identified a novel LDLR gene polymorphic mutation which is the first to be described here in the Libyan population, increasing the spectrum of ADH-causative mutations.