title: A YAC contig across the fragile X site defines the region of fragility.
abstract: 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.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: K
authors.initials: K
authors.lastname: Rack
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: A
authors.initials: A
authors.lastname: Roche
authors.forename: M V
authors.initials: MV
authors.lastname: Bell
authors.forename: G
authors.initials: G
authors.lastname: Flynn
authors.forename: Z
authors.initials: Z
authors.lastname: Christadoulou
authors.forename: R N
authors.initials: RN
authors.lastname: MacKinnon
authors.forename: M
authors.initials: M
authors.lastname: Francis
authors.forename: A J
authors.initials: AJ
authors.lastname: Littler
mesh_terms: D001483:Base Sequence; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D004247:DNA; D005600:Fragile X Syndrome / Q000235:genetics*; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D008297:Male; D008745:Methylation; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D004247:DNA