Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect

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dc.contributor.authorBrink, P. A.en_ZA
dc.contributor.authorBrink, L. T.en_ZA
dc.contributor.authorTorrington, M.en_ZA
dc.contributor.authorBester, A. J.en_ZA
dc.date.accessioned2011-03-18T14:57:20Z
dc.date.available2011-03-18T14:57:20Z
dc.date.issued1990
dc.descriptionCITATION: Brink, P. A. et al. 1990. Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect. South African Medical Journal, 77:292-296.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractOverlap of clinical and biochemical characteristics between hypercholesterolaemia in members of the general population and familial hypercholesterolaemic (FH) individuals may lead to misdiagnosis. Quantitative analyisis of family data may circumvent this problem. A way of looking for an association between plasma cholesterol levels and restriction fragment length polymorphism markers (RFLP) on the low-density lipoprotein (LDL) receptor gene by using reference cholesterol distributions was explored. Linkage, with a logarithm of the odds (LOD) score of 6,8 at θ 0, was detected between cholesterol levels and the LDL receptor in an extended Afrikaner family. Two RFLP-haplotypes, one previously found in a majority of Afrikaner FH homozygotes, and a second, Stu I -, BstE II +, Pvu II +, Nco I +, were associated with high cholesterol levels in this pedigree.
dc.description.versionPublisher’s version
dc.format.extent5 pages
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7352
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectCholesterolen_ZA
dc.titleLinkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effecten_ZA
dc.typeArticle
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