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

A M van den Ouweland; B B de Vries; P L Bakker; W H Deelen; E de Graaff; J O van Hemel; B A Oostra; M F Niermeijer; D J Halley

doi:10.1002/ajmg.1320510437

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

Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437.

Authors

A M van den Ouweland¹, B B de Vries, P L Bakker, W H Deelen, E de Graaff, J O van Hemel, B A Oostra, M F Niermeijer, D J Halley

Affiliation

¹ Department of Clinical Genetics, University Hospital, Rotterdam, The Netherlands.

PMID: 7943024
DOI: 10.1002/ajmg.1320510437

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.

MeSH terms

Blotting, Southern
Child, Preschool
Chromosome Aberrations
Cloning, Molecular
DNA Mutational Analysis
DNA Probes
Dinucleoside Phosphates / metabolism
Female
Fragile X Syndrome / diagnosis*
Fragile X Syndrome / genetics
Gene Dosage
Humans
Intellectual Disability / genetics
Male
Methylation
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
Suppression, Genetic

Substances

DNA Probes
Dinucleoside Phosphates
cytidylyl-3'-5'-guanosine