title: Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia.
abstract: Familial hypercholesterolaemia (FH) is more prevalent among Afrikaans-speaking individuals in South Africa then elsewhere. Founder effects have been suggested as an explanation. A study was undertaken that demonstrated ancestral links for a low-density lipoprotein receptor allele, haplotype No. 2, in the two lines of descent identified and 2 other known pedigrees with the same haplotype. Probable founder members for this haplotype are identified. These differ from the founder members assumed to be responsible for a majority of FH. A minor founder effect is suggested. Explanations are given for the apparent lesser prevalence of the second haplotype associated with FH.
authors.affiliation: Genealogical Section, South African Medical Research Council, Parowvallei, CP.
authors.forename: M
authors.initials: M
authors.lastname: Torrington
authors.forename: P A
authors.initials: PA
authors.lastname: Brink
mesh_terms: D005260:Female; D005789:Genealogy and Heraldry; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013019:South Africa