title: Molecular cloning and analysis of the fragile X region in man.
abstract: The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.
authors.affiliation: Deutsches Krebsforschungszentrum, Institut fuer Virusforschung, Heidelberg, FRG.
authors.forename: A
authors.initials: A
authors.lastname: Dietrich
authors.forename: P
authors.initials: P
authors.lastname: Kioschis
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: B
authors.initials: B
authors.lastname: Gross
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: S V
authors.initials: SV
authors.lastname: Williams
authors.forename: D
authors.initials: D
authors.lastname: Sheer
authors.forename: D
authors.initials: D
authors.lastname: Heitz
authors.forename: I
authors.initials: I
authors.lastname: Oberle
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
mesh_terms: D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D003360:Cosmids; D015226:Dinucleoside Phosphates / Q000378:metabolism; D004586:Electrophoresis; D005453:Fluorescence; D005600:Fragile X Syndrome / Q000235:genetics*; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D008745:Methylation; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide