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Blood, 1 May 2005, Vol. 105, No. 9, pp. 3542-3544. Prepublished online as a Blood First Edition Paper on January 18, 2005; DOI 10.1182/blood-2004-10-3968. This Article Full Text (PDF) All Versions of this Article: 2004-10-3968v1 105/9/3542    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Morgan, N. V Articles by Mathew, C. G Search for Related Content PubMed PubMed Citation Articles by Morgan, N. V Articles by Mathew, C. G Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted October 14, 2004 Accepted January 1, 2005 A common Fanconi Anemia mutation in black populations of sub-Saharan Africa Neil V Morgan, Fahmida Essop, Ilja Demuth, Thomy de Ravel, Stander Jansen, Marc Tischkowitz, Cathryn M Lewis, Linda Wainwright, Janet Poole, Hans Joenje, Martin Digweed, Amanda Krause, and Christopher G Mathew* Department of Medical and Molecular Genetics, Guy's, King's and St Thomas' School of Medicine, London, United Kingdom Department of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa Institute of Human Genetics, Humboldt University, Berlin, Germany Department of Human Genetics, University of the Free State, Bloemfontein, South Africa Department of Paediatrics, Chris Hari Baragwanath Hospital and University of Witwatersrand, Johannesburg, South Africa Department of Haematology and Oncology, New Johannesburg Hospital and University of Witwatersrand, Johannesburg, South Africa Department of Clinical & Human Genetics, VU Medical Centre, Amsterdam, The Netherlands * Corresponding author; email: Christopher.Mathew{at}Genetics.kcl.ac.uk. Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer. We report that a deletion mutation in the FANCG gene (c.637_643delTACCGCC) was present in 82% of FA patients in the Black populations of Southern Africa. These patients originated from South Africa, Swaziland, Mozambique and Malawi. The mutation was found on the same haplotype, and was present in 1% of controls from the Black South African population. These data indicate that the birth incidence of FA in this population is greater than 1/40,000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa. Diagnostic screening is now possible by means of a simple DNA test. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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