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Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia
- Source :
- American Journal of Medical Genetics. :15-19
- Publication Year :
- 2003
- Publisher :
- Wiley, 2003.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....894bf942ab84c638fbd7d8321332235c