Links

Tools

Export citation

Search in Google Scholar

Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia

Journal article published in 1990 by M. Torrington, P. A. Brink ORCID
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Full text: Unavailable

Question mark in circle
Preprint: policy unknown
Question mark in circle
Postprint: policy unknown
Question mark in circle
Published version: policy unknown

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.