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Sequencing and Analyzing the 't' (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-Onset Schizophrenia/Autistic Disorder
- Source :
-
Journal of Autism and Developmental Disorders . Apr 2008 38(4):668-677. - Publication Year :
- 2008
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 0162-3257
- Volume :
- 38
- Issue :
- 4
- Database :
- ERIC
- Journal :
- Journal of Autism and Developmental Disorders
- Publication Type :
- Academic Journal
- Accession number :
- EJ788746
- Document Type :
- Journal Articles<br />Reports - Evaluative
- Full Text :
- https://doi.org/10.1007/s10803-007-0435-8