Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1991-12

AUTHORS

Frans Graadt van Roggen, Deneys R. van der Westhuyzen, A. David Marais, Wieland Gevers, Gerhard A. Coetzee

ABSTRACT

Afrikaners with familial hypercholesterolaemia (FH) were screened for the presence of three point mutations in the low density lipoprotein receptor gene that were previously described as being relatively common in this population. The prevalence and distribution of the mutations were compared in 27 unrelated homozygous and 79 unrelated heterozygous FH Afrikaner patients from two regions in South Africa, the Transvaal and Cape Provinces. The relative distribution of the three mutations was similar in the two regions, with the FH1 mutation being the most prevalent (66%), followed by the FH2 mutation (27%) and the FH3 mutation (7%). Interestingly, defects other than the three common mutations are more common in the Cape than in the Transvaal; thus the three known mutations account for 98% of FH alleles in the Transvaal and only 74% in the Cape Province. None of the patients carried the recently described familial defective apolipoprotein B100 mutation. These results establish that three "founder" mutant genes occur amongst the Afrikaner and are responsible for the overall high prevalence of FH in this population. More... »

PAGES

204-208

Journal

TITLE

Human Genetics

ISSUE

2

VOLUME

88

Author Affiliations

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf00206073

    DOI

    http://dx.doi.org/10.1007/bf00206073

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1039119431

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/1757095


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