title: DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.
abstract: The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR-1 gene.
authors.affiliation: Department of Clinical Genetics, University Hospital, Rotterdam, The Netherlands.
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: B B
authors.initials: BB
authors.lastname: de Vries
authors.forename: P L
authors.initials: PL
authors.lastname: Bakker
authors.forename: W H
authors.initials: WH
authors.lastname: Deelen
authors.forename: E
authors.initials: E
authors.lastname: de Graaff
authors.forename: J O
authors.initials: JO
authors.lastname: van Hemel
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
mesh_terms: D015139:Blotting, Southern; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D015342:DNA Probes; D015226:Dinucleoside Phosphates / Q000378:metabolism; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D018628:Gene Dosage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008745:Methylation; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D013489:Suppression, Genetic
chemical_list: D015342:DNA Probes; D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide