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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A common Fanconi anemia mutation in black populations of sub-Saharan Africa
Blood, Volume 105, No. 9, Year 2005
Notification
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Description
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 FANCGgene (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 higher than 1 in 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. © 2005 by The American Society of Hematology.
Authors & Co-Authors
Morgan, Neil V.
Unknown Affiliation
Essop, Fahmida B.
Unknown Affiliation
Demuth, Ilja
Unknown Affiliation
de Ravel, Thomy J.L.
Unknown Affiliation
Jansen, Stander
Unknown Affiliation
Tischkowitz, Marc D.
Unknown Affiliation
Lewis, Cathryn M.
Unknown Affiliation
Wainwright, Linda
Unknown Affiliation
Poole, Janet Elizabeth
Unknown Affiliation
Joenje, Hans
Unknown Affiliation
Krause, Amanda
Unknown Affiliation
Mathew, Christopher G.
United Kingdom, London
Guy's Hospital
Statistics
Citations: 45
Authors: 12
Affiliations: 1
Identifiers
Doi:
10.1182/blood-2004-10-3968
ISSN:
00064971
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Eswatini
Malawi
Mozambique
South Africa