title: Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
abstract: Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford.
authors.forename: G A
authors.initials: GA
authors.lastname: Flynn
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: J N
authors.initials: JN
authors.lastname: Macpherson
authors.forename: J C
authors.initials: JC
authors.lastname: Barber
authors.forename: A V
authors.initials: AV
authors.lastname: Flannery
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: V J
authors.initials: VJ
authors.lastname: Buckle
mesh_terms: D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005492:Folic Acid / Q000494:pharmacology; D005600:Fragile X Syndrome / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D066298:In Vitro Techniques; D008297:Male; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome / Q000187:drug effects
chemical_list: D015342:DNA Probes; D005492:Folic Acid