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© 1993 Oxford University Press

OTHER

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

M.C. Hirst, A. Barnicoat2, G. Flynn, Q. Wang2, M. Daker2, V.J. Buckle1, K.E. Davies*, and M. Bobrow2

Molecular Genetics Group, John Radcliffe Hospital Headington, Oxford OX3 9DU 1MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU 2Guy's and St Thomas's United Medical and Dental School, Division of Paediatrics, Guy's Hospital London Bridge, London, UK

* To whom correspondence should be addressed

Received November 10, 1992; Accepted December 3, 1992

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.


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