Ashworth, A., Abusaad, I., Walsh, C., Nanko, S., Murray, R. M., Asherson, P., McGuffin, P., Gill, M., Owen, Michael John  ORCID: https://orcid.org/0000-0003-4798-0862 and Collier, D. A.
1996.
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.
Psychiatric Genetics
6
(2)
, pp. 81-86.
10.1097/00041444-199622000-00008
|
Abstract
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.
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | Published |
| Schools: | Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII) |
| Subjects: | R Medicine > R Medicine (General) |
| Publisher: | Lippincott Williams & Wilkins |
| ISSN: | 0955-8829 |
| Last Modified: | 31 Oct 2022 09:41 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/82080 |
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