Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsFamilial HypercholesterolemiaGenetic RiskGenotype-phenotype Association AnalysisLipid DisordersPedigree AnalysisSegregation AnalysisHeterozygous Familial HypercholesterolemiaHomozygous Familial HypercholesterolemiaLow-density Lipoprotein Receptor FamilyLow-density Lipoprotein Receptor GeneticsMendelian Segregation PatternsSegregation
A new restriction fragment length polymorphism (RFLP) in the low-density lipoprotein receptor gene is described using the Stu I restriction endonuclease and a cDNA probe. The frequency of the two RFLP alleles was determined in 60 unrelated white subjects and 11.7% of them were found to be heterozygous for the polymorphism. Mendelian segregation of the RFLP was found in 3 informative families. The possible use of the RFLP in the diagnosis of familial hypercholesterolaemia in South Africa is discussed.