title: The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.
abstract: 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.
authors: Department of Human Genetics, University of Stellenbosch, Parowvallei, CP.
authors: M J
authors: MJ
authors: Kotze
authors: E
authors: E
authors: Langenhoven
authors: L
authors: L
authors: Warnich
authors: L
authors: L
authors: du Plessis
authors: M P
authors: MP
authors: Marx
authors: C J
authors: CJ
authors: Oosthuizen
authors: A E
authors: AE
authors: Retief
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons; D005822:Genetic Vectors; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D011973:Receptors, LDL