The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.
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.
Kotze
M J
MJ
Department of Human Genetics, University of Stellenbosch, Parowvallei, CP.
Langenhoven
E
E
Warnich
L
L
du Plessis
L
L
Marx
M P
MP
Oosthuizen
C J
CJ
Retief
A E
AE
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
D011973:Receptors, LDL