(Health & Medical Publishing Group, 1986-07) Brink, P. A.; Steyn, L. T.; Bester, A. J.; Steyn, K.
We describe the presence of a linkage disequilibrium between high cholesterol levels in Afrikaner individuals
and the common allele of the Pvu II restriction fragment polymorphism on the low-density lipoprotein (LDL) receptor gene. The frequencies of the common and the rare allele in a sample of the Afrikaner population were 0,654 and 0,346 (65 individuals) and 0,794 and 0,206 in the hypercholesterolaemic population (34 patients) (P < 0,05). This finding supports other evidence for a founder origin of the high frequency of familial hypercholesterolaemia among
Afrikaners.