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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
Human Genetics, Volume 111, No. 4-5, Year 2002
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Description
Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 (MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A no-table exception however is the prevalence of PXE among South Africa Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single based-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population. © Spinger-Verlag 2002.
Authors & Co-Authors
Le Saux, Olivier
United States, Honolulu
Pacific Biosciences Research Center
Beck, Konstanze
United States, Honolulu
Pacific Biosciences Research Center
Sachsinger, Christine
United States, Honolulu
Pacific Biosciences Research Center
Treiber, Carina
United States, Honolulu
Pacific Biosciences Research Center
Göring, Harald H.H.
United States, San Antonio
Texas Biomedical Research Institute
Curry, Katie
United States, Phoenix
Barrow Neurological Institute
Johnson, Eric W.
United States, Phoenix
Barrow Neurological Institute
Bercovitch, Lionel G.
United States, Providence
Brown University
Marais, Anna Susan
Unknown Affiliation
Terry, Sharon
United States, Sharon
Pxe International, Inc.
Viljoen, Dennis Lucy
South Africa, Johannesburg
University of the Witwatersrand
Boyd, Charles D.
United States, Honolulu
Pacific Biosciences Research Center
Statistics
Citations: 40
Authors: 12
Affiliations: 6
Identifiers
Doi:
10.1007/s00439-002-0808-1
ISSN:
03406717
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
South Africa