On the molecular genetics of retinal dystrophies and glaucoma
Citation:
Avril Maria Kennan, 'On the molecular genetics of retinal dystrophies and glaucoma', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2000, pp 288Download Item:
Kennan TCD THESIS 5628 On the molecular.pdf (PDF) 153.9Mb
Abstract:
The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the eye. Previous linkage studies on a large Spanish kindred (family FA-84), segregating adRP, resulted in the localisation of an adRP gene (RPIO) to chromosome 7q31.3 (Jordan et al., 1993). Linkage and haplotype data were re-evaluated in this family and two novel genes were adopted as candidates. These genes encoded a metabotropic glutamate receptor, GRM8, and a diacylglycerol kinase,
DGK1. Prior to mutation screening it was necessary to determine much o f the structure of GRM8. The gene was screened using both single-stranded conformational
polym orphism (SSCP) analysis and direct sequencing. A small portion o f the gene for which the intron/exon structure was unknown was screened following RT-PCR on
illegitimate transcripts in blood. No mutations were identified in GRM8. SSCP analysis o f the DGK1 gene resulted in the identification of a two-allele polymorphism which also allowed exclusion o f this gene as RP10.
Author: Kennan, Avril Maria
Qualification name:
Doctor of Philosophy (Ph.D.)Publisher:
Trinity College (Dublin, Ireland). Department of GeneticsNote:
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Genetics, Ph.D., Ph.D. Trinity College DublinLicences: