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

Brink P.A. ; Steyn L.T. ; Coetzee G.A. ; Van Der Westhuyzen D.R. (1987)


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 familial hypercholesterolemic subjects from this South African group were genotypes 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+ haplotype. The remaining four were genotyped for Puv 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.

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