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

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...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 51; no. 4; p. 482
Main Authors van den Ouweland, A M, de Vries, B B, Bakker, P L, Deelen, W H, de Graaff, E, van Hemel, J O, Oostra, B A, Niermeijer, M F, Halley, D J
Format Journal Article
LanguageEnglish
Published United States 15.07.1994
Subjects
Blotting, Southern
Child, Preschool
Chromosome Aberrations
Cloning, Molecular
Dinucleoside Phosphates - metabolism
DNA Mutational Analysis
DNA Probes
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
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320510437