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Title: Testing the hypothesis that a cytogenetic rearrangement confers susceptibility to schizophrenia and related disorders
Author: Wilson-Annan, Julie
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1997
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We have identified a balanced translocation t(1:11)(q14.3) which co-segregates with psychosis in a large Scottish pedigree. This thesis takes several approaches to identifying genes residing around the translocation breakpoint which may be involved with the psychiatric diagnosis in this family. • Candidate gene approach: Two actinin genes ACTN 2 and ACTN 3, were considered as potential candidate genes, having previously been described as mapping to the general region of the translocation breakpoint on chromosomes 1 and 11 respectively. High resolution mapping employing somatic cell hybrid and YAC DNA from the region indicated that these two genes were >2Mb from the breakpoint, lying outwith the YAC contigs, and were therefore not considered further as candidates. • High resolution of expressed sequence tagged sites from chromosome 11 This approach utilised resources available from the Human Genome Project to identify transcripts from the chromosome 11 breakpoint region. Of the 18 EST's mapped none were close enough to the chromosome 11 breakpoint to be considered further as candidates. • Allelic Association Study using markers from chromosome 1 and 11 breakpoint regions An allelic association study was undertaken using two polymorphic markers, identified as lying in close proximity to the chromosome 1 and 11 breakpoint, to test for linkage disequilibrium with a postulated schizophrenia susceptibility gene in a random population schizophrenia subjects and unipolar depressed subjects compared with a matched normal control population. This study showed no differences in allele frequencies between the affected and control group, evidence against a nearby gene of major effect in the populations studied. • Coincident Sequence Cloning In order to identify foetal brain expressed sequences from the region spanning the chromosome 1 breakpoint to a cDNA selection based technique, coincident sequence cloning was employed. Two products from the library produced were identified as novel cDNA transcripts and were characterised by sequence and expression studies.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available