Human Genetics

, Volume 77, Issue 1, pp 32–35 | Cite as

Familial hypercholesterolemia in South African Afrikaners

Pvu II and Stu I DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect
  • P. A. Brink
  • L. T. Steyn
  • G. A. Coetzee
  • D. R. Van der Westhuyzen
Original Investigations


Familial hypercholesterolemia (FH), at a prevalence of more than 1 in 100, is at least five times more common in one South African population group than in populations in North America and Europe. Fourteen homozygotic tamilial hypercholesterolemic subjects from this South African group were genotyped for two intragenic DNA restriction fragment length polymorphisms (RFLPs) in the LDL-receptor gene. A Stu I polymorphism is located in exon 8, and a Pvu II polymorphism, in intron 15. Of ten unrelated FH homozygotes genotyped for both RFLPs, nine were homozygous for an S+P- haplotype, and one was heterozygous for an S+P-/S-P+ heplotype. The remaining four were genotyped for Pvu II only and were homozygous for P-. Compared with a previously determined population frequency for the latter, this represents an association (P<0.05) between the frequency for the P- allele and FH in this population, and this finding is consistent with the “founder gene effect” previously postulated to be present on genealogical and biochemical evidence.


Restriction Fragment Length Polymorphism African Population Familial Hypercholesterolemia Familial Hypercholesterolemia Population Frequency 
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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • P. A. Brink
    • 1
  • L. T. Steyn
    • 1
  • G. A. Coetzee
    • 2
  • D. R. Van der Westhuyzen
    • 2
  1. 1.MRC Unit for Molecular and Cellular Cardiology Research, Department of Medical BiochemistryUniversity of Stellenbosch Medical SchoolTygerbergSouth Africa
  2. 2.MRC/UCT Muscle Research Unit, Department of Medical BiochemistryUniversity of Cape Town Medical SchoolCape TownSouth Africa

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