Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia
| Autor: | J. R. DePaulo, Akira Sawa, Melvin G. McInnis, Lynn E. DeLisi, Colleen Callahan, Russell L. Margolis, Susan E. Holmes, T. Tsutsumi, Christopher A. Ross |
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| Rok vydání: | 2003 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities Psychosis Bipolar Disorder Genotype Genetic counseling Population Risk Factors mental disorders medicine Humans Bipolar disorder education Genetics (clinical) Genetics education.field_of_study business.industry medicine.disease nervous system diseases Schizophrenia Mutation Anticipation (genetics) Trinucleotide Repeat Expansion Trinucleotide repeat expansion business |
| Zdroj: | American Journal of Medical Genetics. :15-19 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.b.20058 |
| Popis: | The possible presence of anticipation in bipolar affective disorder and schizophrenia has led to the hypothesis that repeat expansion mutations could contribute to the genetic etiology of these diseases. Using the repeat expansion detection (RED) assay, we have systematically examined genomic DNA from 100 unrelated probands with schizophrenia and 68 unrelated probands with bipolar affective disorder for the presence of CAG/CTG repeat expansions. Our results show that 28% of the probands with schizophrenia and 30% of probands with bipolar disorder have a CAG/CTG repeat in the expanded range, but that each expansion could be explained by one of three nonpathogenic repeat expansions known to exist in the general population. We conclude that novel CAG/CTG repeat expansions are not a common genetic risk factor for bipolar disorder or schizophrenia. |
| Databáze: | OpenAIRE |
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