The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia
CITATION: Kotze, M. J. et al. 1989. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. South African Medical Journal, 76:399-401.
The original publication is available at http://www.samj.org.za
Two point mutations were discovered in the low-density lipoprotein genes of patients with familial hypercholesterolaemia (FH). Defective genes were cloned and/or amplified by the polymerase chain reaction (PCR) method and the DNA sequences determined. A guanine to adenine base transition in exon 4 was found to be the molecular defect in 20% of cases of FH in the Afrikaner population. A second mutation, a guanine to adenine base substitution in exon 9, was identified in two homozygous FH individuals. Restriction enzyme analysis of PCR-amplified DNA from blood and tissue samples now permits accurate diagnosis of these mutations.