Search for unstable DNA in schizophrenia families with evidence for genetic anticipation
- Univ. of British Columbia, Vancouver (Canada); and others
Evidence for genetic anticipation has recently become an important subject of research in clinical psychiatric genetics. Renewed interest in anticipation was evoked by molecular genetic findings of a novel type of mutation termed {open_quotes}unstable DNA.{close_quotes} The unstable DNA model can be construed as the {open_quotes}best fit{close_quotes} for schizophrenia twin and family epidemiological data. We have performed a large-scale Southern blot hybridization, asymmetrical PCR-based, and repeat expansion-detection screening for (CAG){sub n}/(CTG){sub n} and (CCG){sub n}/(CGG){sub n} expansions in eastern Canadian schizophrenia multiplex families demonstrating genetic anticipation. There were no differences in (CAG){sub n}/(CTG){sub n} and (CCG){sub n}/(CGG){sub n} pattern distribution either between affected and unaffected individuals or across generations. Our findings do not support the hypothesis that large (CAG){sub n}/(CTG){sub n} or (CCG){sub n}/(CGG){sub n} expansions are the major etiologic factor in schizophrenia. A separate set of experiments directed to the analysis of small (30-130 trinucleotides), Huntington disease-type expansions in individual genes is required in order to fully exclude the presence of (CAG){sub n}/(CTG){sub n}- or (CCG){sub n}/(CGG){sub n}-type unstable mutation. 38 refs., 2 figs.
- OSTI ID:
- 476762
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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