ERIC Number: EJ788746
Record Type: Journal
Publication Date: 2008-Apr
Reference Count: 0
Sequencing and Analyzing the "t" (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-Onset Schizophrenia/Autistic Disorder
Idol, Jacquelyn R.; Addington, Anjene M.; Long, Robert T.; Rapoport, Judith L.; Green, Eric D.
Journal of Autism and Developmental Disorders, v38 n4 p668-677 Apr 2008
We characterized a "t"(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a 16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders.
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Publication Type: Journal Articles; Reports - Evaluative
Education Level: N/A
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