SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE

The low-density lipoprotein receptor (LDLr) plays a pivotal role in ch olesterol homeostasis, Mutations in the LDLr gene (LDLR), which is loc ated on chromosome 19, cause familial hypercholesterolemia (FH), an au tosomal dominant disorder characterized by severe hypercholesterolemia associated with premature coronary atherosclerosis. To date almost 30 0 mutations have been identified in the LDLR gene, To facilitate the m utational analysis of the LDLR gene, and promote the analysis of the r elationship between genotype and phenotype, a software package along w ith a computerized database (currently listing 210 entries) have been created.