Multiple mutations underlying familial hypercholesterolemia in the South African population

Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles...

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Bibliographic Details
Published in:Human genetics 1989-08, Vol.83 (1), p.67-70
Main Authors: HENDERSON, H. E, KOTZE, M. J, BERGER, G. M. B
Format: Article
Language:English
Subjects:
Biological and medical sciences
Disorders of blood lipids. Hyperlipoproteinemia
Endocrinopathies
Ethnic Groups
Female
Gene Frequency
Genes
Humans
Hyperlipoproteinemia Type II - ethnology
Hyperlipoproteinemia Type II - genetics
Male
Medical sciences
Metabolic diseases
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
South Africa
Tropical medicine
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Summary:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH phenotype. Five distinct haplotypes were detected. Hybridization analysis using DNA codigested with EcoRI and PstI revealed that haplotype IV was associated with two distinct mutations. When coupled to the recent demonstration by other workers of two receptor defects in South African Afrikaners homozygous for FH and haplotype I, these data are suggestive of at least seven distinct LDL receptor mutations in the FH patients examined and thus in the general South African population.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00274151