dc.contributor.author | Kennan, Avril Maria | |
dc.date.accessioned | 2019-07-25T13:35:26Z | |
dc.date.available | 2019-07-25T13:35:26Z | |
dc.date.issued | 2000 | |
dc.identifier.citation | Avril Maria Kennan, 'On the molecular genetics of retinal dystrophies and glaucoma', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2000, pp 288 | |
dc.identifier.other | THESIS 5628 | |
dc.identifier.uri | http://hdl.handle.net/2262/88910 | |
dc.description.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. | |
dc.format | 1 volume | |
dc.language.iso | en | |
dc.publisher | Trinity College (Dublin, Ireland). Department of Genetics | |
dc.relation.isversionof | http://stella.catalogue.tcd.ie/iii/encore/record/C__Rb12464517 | |
dc.subject | Genetics, Ph.D. | |
dc.subject | Ph.D. Trinity College Dublin | |
dc.title | On the molecular genetics of retinal dystrophies and glaucoma | |
dc.type | thesis | |
dc.type.supercollection | thesis_dissertations | |
dc.type.supercollection | refereed_publications | |
dc.type.qualificationlevel | Doctoral | |
dc.type.qualificationname | Doctor of Philosophy (Ph.D.) | |
dc.rights.ecaccessrights | openAccess | |
dc.format.extentpagination | pp 288 | |
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