title: Molecular analysis of the fragile X syndrome.
abstract: Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct detection of the mutation enables the identification of fragile X negative normal transmitting males and fragile X negative carrier females.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human