Family-based association and molecular genetic analysis of genes implicated in the aetiology of autism
Citation:
Lynne Cochrane, 'Family-based association and molecular genetic analysis of genes implicated in the aetiology of autism', [thesis], Trinity College (Dublin, Ireland). School of Medicine. Discipline of Psychiatry, 2009, pp 277Download Item:
Cochrane TCD THESIS 8800 Family based association.pdf (PDF) 200.4Mb
Abstract:
Autism is an early onset neurodevelopmental disorder affecting three core areas of
behaviour - communication, social behaviour and restricted/repetitive behaviour.
Although family and twin studies indicate a genetic contribution to the aetiology of
autism, definitive susceptibility genes have yet to be identified. This research
applied a candidate gene approach, using a family-based association strategy.
Selection of candidate genes was informed by three areas of autism research - (i)
rare mutations identified in individuals with autism, (ii) results of autism linkage
studies and (iii) biological pathways highlighted by pathophysiological studies in
autism. Data from association findings was then followed up using assays to
determine the biological relevance of genetic variation.
Author: Cochrane, Lynne
Advisor:
Gallagher, LouiseGill, Michael
Qualification name:
Doctor of Philosophy (Ph.D.)Publisher:
Trinity College (Dublin, Ireland). School of Medicine. Discipline of PsychiatryNote:
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Genetics, Ph.D., Ph.D. Trinity College Dublin.Licences: