Linkage analysis of the fragile X gene FMR-1 and schizophrenia: No evidence for linkage but report of a family with schizophrenia and an unstable triplet repeat
| Autor: | A. Ashworth, Michael John Owen, Michael Gill, Iman Abusaad, Cathal Walsh, D. A. Collier, Robin M. Murray, P. McGuffin, Shinichiro Nanko, P. Asherson |
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| Předmět: |
Adult
Male Obsessive-Compulsive Disorder Adolescent Genetic Linkage DNA Mutational Analysis Pedigree chart Locus (genetics) Genes Recessive Nerve Tissue Proteins Biology Polymerase Chain Reaction law.invention Fragile X Mental Retardation Protein Trinucleotide Repeats law Genetic linkage Genetics Humans Allele Gene Biological Psychiatry Genetics (clinical) Polymerase chain reaction X chromosome Southern blot Genes Dominant Infant Newborn RNA-Binding Proteins Pedigree Psychiatry and Mental health Psychotic Disorders Fragile X Syndrome Schizophrenia Female Lod Score |
| Zdroj: | Scopus-Elsevier |
| Popis: | We have examined 23 families multiply affected with schizophrenia for linkage to the FMR-1 gene on the X chromosome. Alleles at the FMR-1 CGG triplet repeat were analysed by the polymerase chain reaction, and methylation status at the FMR-1 locus in individuals with evidence of expanded or unstable repeats was analysed by Southern hybridization. Two-point LOD score analyses with a range of X-linked single gene models and a non-parametric affected sib-pair method revealed no evidence for linkage. In one family, however, a fragile X premutation was found, and one individual with schizophrenia and developmental delay was a mosaic for the full and premutation. We conclude that although mutations within the FMR-1 gene do not have a major aetiological role in schizophrenia in our collection of pedigrees, it is possible that FMR-1 mutations can modify the clinical phenotype of schizophrenia. |
| Databáze: | OpenAIRE |
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