Abstract |
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 "unstable DNA." The unstable DNA model can be construed as the "best fit" 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)n/(CTG)n and (CCG)n/(CGG)n expansions in eastern Canadian schizophrenia multiplex families demonstrating genetic anticipation. There were no differences in (CAG)n/(CTG)n and (CCG)n/(CGG)n pattern distribution either between affected and unaffected individuals or across generations. Our findings do not support the hypothesis that large (CAG)n/(CTG)n or (CCG)n/(CGG)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)n/(CTG)n- or (CCG)n/(CGG)n-type unstable mutation.
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Authors | A Petronis, A S Bassett, W G Honer, J B Vincent, Y Tatuch, T Sasaki, D J Ying, T A Klempan, J L Kennedy |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 59
Issue 4
Pg. 905-11
(Oct 1996)
ISSN: 0002-9297 [Print] United States |
PMID | 8808607
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Blotting, Southern
- DNA
(genetics)
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Schizophrenia
(genetics)
- Trinucleotide Repeats
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