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Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia

dc.contributor.authorKotze M.J.
dc.contributor.authorLangenhoven E.
dc.contributor.authorRetief A.E.
dc.contributor.authorSteyn K.
dc.contributor.authorMarais M.P.
dc.contributor.authorGrobbelaar J.J.
dc.contributor.authorOosthuizen C.J.J.
dc.contributor.authorWeich H.F.H.
dc.contributor.authorBenade A.J.S.
dc.date.accessioned2011-05-15T16:17:02Z
dc.date.available2011-05-15T16:17:02Z
dc.date.issued1987
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation24
dc.identifier.citation12
dc.identifier.issn00222593
dc.identifier.urihttp://hdl.handle.net/10019.1/14043
dc.description.abstractThe frequency and inheritance of three restriction fragment length polymorphisms (RFLPs) of the low density lipoprotein (LDL) receptor gene were investigated in 27 South African families with familial hypercholesterolaemia. Four haplotypes, defined by the enzymes PvuII, StuI, and NcoI, were found to segregate in this population. The frequency of the rare allele detected by NcoI was found to be 0.53 in 45 unrelated familial hypercholesterolaemic (FH) patients compared to 0.33 in 60 normal controls (p<0.005). In 71% of the families studied, a haplotype with common alleles for PvuII and StuI and the rare allele for NcoI cosegregated with the defective gene. In 20% of the families, a second haplotype with rare alleles for PvuII and StuI and common allele for NcoI segregated with FH. In these families the haplotypes unambiguously cosegregate with the disease and can therefore be used for early diagnosis of FH.
dc.subjectlow density lipoprotein
dc.subjectlow density lipoprotein receptor
dc.subjectclinical article
dc.subjectdna polymorphism
dc.subjectfamilial hypercholesterolemia
dc.subjectfamily study
dc.subjectgene locus
dc.subjectgenetic engineering
dc.subjecthaplotype
dc.subjecthuman
dc.subjectrestriction fragment length polymorphism
dc.subjectsouth africa
dc.subjectAdult
dc.subjectCholesterol
dc.subjectDNA
dc.subjectFemale
dc.subjectHaplotypes
dc.subjectHuman
dc.subjectHypercholesterolemia, Familial
dc.subjectLipoproteins, HDL
dc.subjectMale
dc.subjectMiddle Age
dc.subjectPolymorphism (Genetics)
dc.subjectReceptors, LDL
dc.subjectSupport, Non-U.S. Gov't
dc.titleHaplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia
dc.typeArticle
dc.description.versionArticle


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