A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability

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dc.contributor.authorPetersen, M. B.en
dc.contributor.authorKitsos, G.en
dc.contributor.authorSamples, J. R.en
dc.contributor.authorGaudette, N. D.en
dc.contributor.authorEconomou-Petersen, E.en
dc.contributor.authorSykes, R.en
dc.contributor.authorRust, K.en
dc.contributor.authorGrigoriadou, M.en
dc.contributor.authorAperis, G.en
dc.contributor.authorChoi, D.en
dc.contributor.authorPsilas, K.en
dc.contributor.authorCraig, J. E.en
dc.contributor.authorKramer, P. L.en
dc.contributor.authorMackey, D. A.en
dc.contributor.authorWirtz, M. K.en
dc.date.accessioned2015-11-24T19:40:19Z
dc.date.available2015-11-24T19:40:19Z
dc.identifier.issn0146-0404-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/24335
dc.rightsDefault Licence-
dc.subjectAdulten
dc.subjectAgeden
dc.subjectAged, 80 and overen
dc.subjectChromatography, High Pressure Liquiden
dc.subjectChromosomes, Human, Pair 1/*geneticsen
dc.subjectChromosomes, Human, Pair 3/*geneticsen
dc.subjectCytoskeletal Proteins/*geneticsen
dc.subjectDNA Mutational Analysisen
dc.subjectExons/geneticsen
dc.subjectEye Proteins/*geneticsen
dc.subjectFemaleen
dc.subjectGenotypeen
dc.subjectGlaucoma, Open-Angle/ethnology/*geneticsen
dc.subjectGlycoproteins/*geneticsen
dc.subjectGreece/ethnologyen
dc.subjectHaplotypesen
dc.subjectHeteroduplex Analysisen
dc.subjectHumansen
dc.subjectInheritance Patternsen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subject*Mutationen
dc.subjectPedigreeen
dc.subjectPhenotypeen
dc.subjectPolymerase Chain Reactionen
dc.titleA large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variabilityen
heal.abstractPURPOSE: POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS: The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS: A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1167/iovs.05-0631-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/16431959-
heal.identifier.secondaryhttp://www.iovs.org/content/47/2/620.full.pdf-
heal.journalNameInvest Ophthalmol Vis Scien
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2006-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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