• Corpus ID: 36286985

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

  title={The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.},
  author={Maritha J. Kotze and E. Langenhoven and Louise Warnich and L du Plessis and Munro P. Marx and C. J. J. Oosthuizen and A. E. Retief},
  journal={South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde},
  volume={76 8},
  • M. Kotze, E. Langenhoven, A. Retief
  • Published 21 October 1989
  • Medicine, Biology
  • South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
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… 

Figures from this paper

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.
Amplification of genomic DNA, using the polymerase chain reaction method, and restriction enzyme analysis now permit accurate diagnosis of the mutation in subjects with FH, and it is predicted that 65% of affected South African Afrikaners carry this particular base substitution.
The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners
These mutations were found in approximately 95% of Afrikaner familial hypercholesterolaemic patients studied, indicating at least three founder members for the disease in this population of South Arica.
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia
The results confirm the clinical and molecular heterogeneity of FH and the influence of different functional classes of mutations on lipid values.
Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
A group of 200 patients with familial hypercholesterolemia (FH) who were attending lipid clinics in the London area have been screened for four known point mutations and a microdeletion in exon 4 of
Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.
The single-strand conformational polymorphism method was used to screen 311 patients with familial hypercholesterolemia for mutations in the 3' part of exon 4 of the low-density lipoprotein (LDL) receptor gene, which is known to be critical for the receptor-mediated removal of both triglyceride-rich lipop protein remnants and LDL.
South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population
The hypothesis that this mutation in exon 9 originated in The Netherlands and, in all likelihood, was introduced into South Africa by early Dutch settlers in the seventeenth century is supported.
Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.
Three low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with
The molecular basis of familial hypercholesterolemia in The Netherlands
With the newly generated index cases, the screening program can be extended and continued to identify and treat FH patients as early as possible and reduce cardiovascular morbidity and mortality in these patients at high risk.


A DNA polymorphism in the human low-density lipoprotein receptor gene.
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 and Mendelian segregation of the RFLP was found in 3 informative families.
Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.
The haplotypes associated with FH function as specific markers for the disease and will allow presymptomatic diagnosis in affected families, and it is concluded that the haplotype analysis in 45 unrelated familial hypercholesterolaemic patients, 60 normal controls, and 32 FH homozygotes confirmed at least two 'founder' members for the Disease in the Afrikaner population.
Prevalence of familial hypercholesterolaemia in three rural South African communities.
Fasting triglyceride values indicated that type IIa was the most frequent hyperlipoproteinaemia, and the mean cholesterol level in the 7 FH cases was considerably below either the same age group in the CORIS population or the index cases not classified as FH.
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.
A thermostable DNA polymerase was used in an in vitro DNA amplification procedure, the polymerase chain reaction, which significantly improves the specificity, yield, sensitivity, and length of products that can be amplified.
A host of hypercholesterolaemic homozygotes in South Africa.
The prevalences of homozygotes and heterozygotes with familial hypercholesterolaemia in Transvaal Afrikaners, calculated from this group of patients, were 1 in 30,000 and 1 in 100 respectively, which are the highest ever reported and may help to explain why South African whites have the highest death rate from coronary heart disease in the Western world.
Haplotype aSSOCiations of three DNA polymotphisms at the human low denslry lipoprotem gene locus m familial hypercholesterolaemia
  • J Med Genec
  • 1987
A RFLP assopated with the low densiry lipoprotein teceptor gene
  • Nucleze ACIds Res
  • 1987
DNA sequencing With cham-termmatmg inhibitors
  • Proe Nacl Aead Sei USA
  • 1977