Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia
Date
1987
Authors
Kotze M.J.
Langenhoven E.
Retief A.E.
Steyn K.
Marais M.P.
Grobbelaar J.J.
Oosthuizen C.J.J.
Weich H.F.H.
Benade A.J.S.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
The 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.
Description
Keywords
low density lipoprotein, low density lipoprotein receptor, clinical article, dna polymorphism, familial hypercholesterolemia, family study, gene locus, genetic engineering, haplotype, human, restriction fragment length polymorphism, south africa, Adult, Cholesterol, DNA, Female, Haplotypes, Human, Hypercholesterolemia, Familial, Lipoproteins, HDL, Male, Middle Age, Polymorphism (Genetics), Receptors, LDL, Support, Non-U.S. Gov't
Citation
Journal of Medical Genetics
24
12
24
12