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Title: Mapping a balanced translocation t(1;11)(q42.2;q21) linked to schizophrenia
Author: Evans, Kathryn L.
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1994
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In order to map the breakpoints of the translocation, a series of somatic cell hybrids has been characterised by PCR and Southern analysis. This analysis has resulted in the determination of flanking markers of the breakpoints on both translocated chromosomes and in the production of a panel through which markers can be mapped, at high resolution, with respect to the chromosome 11 breakpoint region. To generate new markers for the region, microdissection and microcloning of the derived chromosome 1 was undertaken by others and I undertook to map the clones generated in this way. In total I have mapped 28 new microdissection markers, either to chromosome 1 or to a series of intervals on chromosome 11q. The markers which were found to map immediately distal to the chromosome 11 breakpoint were used to isolate YACs from that region. On the basis of co-hybridisation, fingerprint and pulsed field gel electrophoretic analysis, the YACs were assembled into a contig. Pulsed field gel electrophoretic analysis, of genomic DNA from an individual carrying the translocation, compared with DNA from a control individual, with a probe in the interval closest to the translocation breakpoint identified differences in three restriction fragments. This data was consistent with the translocation breakpoint being within approximately 550 kb of this marker.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available