Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus
Date
1989
Authors
Kotze M.J.
Langenhoven E.
Retief A.E.
Seftel H.C.
Henderson H.E.
Weich H.F.H.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Ten 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.
Description
Keywords
lipoprotein receptor, low density lipoprotein, adolescent, adult, child, clinical article, familial hypercholesterolemia, female, gene frequency, gene locus, genetic engineering, genetic recombination, haplotype, heredity, human, human cell, male, normal human, priority journal, restriction fragment length polymorphism, Adolescent, Adult, Alleles, Child, Child, Preschool, Female, Gene Frequency, Genetic Markers, Haplotypes, Heterozygote, Homozygote, Human, Hypercholesterolemia, Familial, Infant, Male, Middle Age, Pedigree, Polymorphism (Genetics), Polymorphism, Restriction Fragment Length, Receptors, LDL, Reference Values, Support, Non-U.S. Gov't
Citation
Journal of Medical Genetics
26
4
26
4