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

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The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE.

FRAXA is unique amongst fragile sites in that it is intimately involved with a specific clinical phenotype, the fragile X syndrome. Whilst the majority of fragile X individuals have been found to have a characteristic mutation in the FMR1 gene, a small proportion of individuals exhibiting fragility have no such mutation. Investigation of the site of chromosome fragility in these FMR1 mutation negative, fragile X site positive individuals, has identified a second site of fragility, FRAXE. However, the presence of FRAXE has not explained all such cases. Here we describe a fragile X site positive, FMR1 mutation negative family, in which chromosome fragility is not due to the FRAXA or FRAXE but is due to a third site designated FRAXF. Using fluorescent in situ hybridisation (FISH) this site is shown to lie over 1Mb distal to FRAXA. The identification of a third fragile site in this small region of the X chromosome provides an opportunity to extend our studies of the molecular nature of chromosome fragility.[1]

References

  1. The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. Hirst, M.C., Barnicoat, A., Flynn, G., Wang, Q., Daker, M., Buckle, V.J., Davies, K.E., Bobrow, M. Hum. Mol. Genet. (1993) [Pubmed]
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