The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia
Kotze, M.J.; Langenhoven, E.; Warnich, L.; du Plessis, L.; Marx, M.P.; Oosthuizen, C.J.; Retief, A.E.
South African Medical Journal 76(8): 399-401
1989
ISSN/ISBN: 0256-9574 PMID: 2799589 Document Number: 336998
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.