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Nucleic Acids Res. 1991 Jun 25;19(12):3283-8.

A YAC contig across the fragile X site defines the region of fragility.

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  • 1Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.


The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.

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