UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.

Gurling, HM; Bolton, PF; Vincent, J; Melmer, G; Rutter, M; (1997) Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes. Hum Hered , 47 (5) pp. 254-262. 10.1159/000154421.

Full text not available from this repository.

Abstract

We undertook molecular and cytogenetic analyses in 25 families multiplex for autism and related disorders. Three of the multiplex families exhibited fragile X, and the affected offspring all exhibited CGG triplet repeat insertion mutations in the FMR-1 gene. One of these families contained an affected pair of monozygotic female twins. Both had similar-sized CGG triplet repeat expansions, but different phenotypic manifestations. One suffered from autism and the other from mild mental retardation and marked social anxiety. PCR and Southern hybridization analysis of the CGG repeat sequences characterizing fragile X A (Frax A) and E and the methylation status of FMR-1 showed no evidence of abnormal CGG repeat expansion or FMR-1 hypermethylation in the remaining 22 multiplex families. Moreover, there was no correlation between the Frax A or E (CGG)n repeat length with affected status, nor any association with the low-level (< 3 %) expression of cytogenetic fragility at Xq27 previously reported in these families. Our findings indicate that most instances of recurrence in families multiplex for autism and related disorders are not accounted for by Frax A and E. They also indicate that the phenotypic manifestations of Frax A may be influenced by stochastic, environmental and other biological factors.

Type: Article
Title: Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.
Location: Switzerland
DOI: 10.1159/000154421
Keywords: Autistic Disorder, Blotting, Southern, DNA Transposable Elements, Family Health, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome, Humans, Male, Methylation, Mutation, Nerve Tissue Proteins, Pedigree, Phenotype, Polymerase Chain Reaction, RNA-Binding Proteins, Trinucleotide Repeat Expansion, Trinucleotide Repeats
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry
URI: http://discovery.ucl.ac.uk/id/eprint/88977
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item