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

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dc.contributor.authorBrink P.A.
dc.contributor.authorSteyn L.T.
dc.contributor.authorCoetzee G.A.
dc.contributor.authorVan Der Westhuyzen D.R.
dc.date.accessioned2011-05-15T15:59:13Z
dc.date.available2011-05-15T15:59:13Z
dc.date.issued1987
dc.description.abstractFamilial 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.
dc.description.versionArticle
dc.identifier.citationHuman Genetics
dc.identifier.citation77
dc.identifier.citation1
dc.identifier.issn3406717
dc.identifier.urihttp://hdl.handle.net/10019.1/11058
dc.subjectclinical article
dc.subjectdna polymorphism
dc.subjectfamilial hypercholesterolemia
dc.subjectfounder effect
dc.subjecthomozygote
dc.subjecthuman
dc.subjectrestriction fragment length polymorphism
dc.subjectsouth africa
dc.subjectCaucasoid Race
dc.subjectDNA Restriction Enzymes
dc.subjectEthnic Groups
dc.subjectFemale
dc.subjectGenetics, Population
dc.subjectHuman
dc.subjectHypercholesterolemia, Familial
dc.subjectMale
dc.subjectNetherlands
dc.subjectPedigree
dc.subjectPolymorphism (Genetics)
dc.subjectPolymorphism, Restriction Fragment Length
dc.subjectReceptors, LDL
dc.subjectSouth Africa
dc.subjectSupport, Non-U.S. Gov't
dc.titleFamilial hypercholesterolemia in South African Afrikaners. Pvu II and Stu I DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect
dc.typeArticle
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