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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.

Original publication




Journal article


Nucleic Acids Res

Publication Date





3283 - 3288


Base Sequence, Chromosomes, Fungal, Cloning, Molecular, DNA, Fragile X Syndrome, Gene Library, Genome, Human, Humans, Male, Methylation, Molecular Sequence Data, Nucleic Acid Hybridization, Restriction Mapping, X Chromosome