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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A common Fanconi anemia mutation in black populations of sub-Saharan Africa.

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 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.[1]

References

  1. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Morgan, N.V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C.M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A., Mathew, C.G. Blood (2005) [Pubmed]
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