Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus

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dc.contributor.authorKotze M.J.
dc.contributor.authorLangenhoven E.
dc.contributor.authorRetief A.E.
dc.contributor.authorSeftel H.C.
dc.contributor.authorHenderson H.E.
dc.contributor.authorWeich H.F.H.
dc.date.accessioned2011-05-15T16:03:36Z
dc.date.available2011-05-15T16:03:36Z
dc.date.issued1989
dc.description.abstractTen useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative heterozygous FH and 23 normal families has shown the segregation of at least 17 haplotypes in the normal population (111 chromosomes) compared to a predominant association of two of these haplotypes with the disease in the FH subjects. This association was further confirmed in 32 FH homozygotes, indicating at least two 'founder' members for the disease in the Afrikaner population. Recombination events were not detected in any of the families studied and we thus conclude that the haplotypes associated with FH function as specific markers for the disease and will allow presymptomatic diagnosis in affected families.
dc.description.versionArticle
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation26
dc.identifier.citation4
dc.identifier.issn222593
dc.identifier.urihttp://hdl.handle.net/10019.1/12693
dc.subjectlipoprotein receptor
dc.subjectlow density lipoprotein
dc.subjectadolescent
dc.subjectadult
dc.subjectchild
dc.subjectclinical article
dc.subjectfamilial hypercholesterolemia
dc.subjectfemale
dc.subjectgene frequency
dc.subjectgene locus
dc.subjectgenetic engineering
dc.subjectgenetic recombination
dc.subjecthaplotype
dc.subjectheredity
dc.subjecthuman
dc.subjecthuman cell
dc.subjectmale
dc.subjectnormal human
dc.subjectpriority journal
dc.subjectrestriction fragment length polymorphism
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAlleles
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectGene Frequency
dc.subjectGenetic Markers
dc.subjectHaplotypes
dc.subjectHeterozygote
dc.subjectHomozygote
dc.subjectHuman
dc.subjectHypercholesterolemia, Familial
dc.subjectInfant
dc.subjectMale
dc.subjectMiddle Age
dc.subjectPedigree
dc.subjectPolymorphism (Genetics)
dc.subjectPolymorphism, Restriction Fragment Length
dc.subjectReceptors, LDL
dc.subjectReference Values
dc.subjectSupport, Non-U.S. Gov't
dc.titleHaplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus
dc.typeArticle
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