Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability

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dc.contributor.authorPatsalis, P. C.en
dc.contributor.authorSismani, C.en
dc.contributor.authorHettinger, J. A.en
dc.contributor.authorBoumba, I.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorStylianidou, G.en
dc.contributor.authorAnastasiadou, V.en
dc.contributor.authorKoukoulli, R.en
dc.contributor.authorPagoulatos, G.en
dc.contributor.authorSyrrou, M.en
dc.date.accessioned2015-11-24T19:03:58Z
dc.date.available2015-11-24T19:03:58Z
dc.identifier.issn0148-7299-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19949
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectAllelesen
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectCyprus/epidemiologyen
dc.subjectDNA/analysisen
dc.subjectFemaleen
dc.subjectFragile X Mental Retardation Proteinen
dc.subjectFragile X Syndrome/*epidemiology/*geneticsen
dc.subjectGenetic Testingen
dc.subjectGreece/epidemiologyen
dc.subjectHaplotypesen
dc.subjectHumansen
dc.subjectIntellectual Disability/*epidemiology/*geneticsen
dc.subjectMaleen
dc.subjectNerve Tissue Proteins/analysisen
dc.subject*Nuclear Proteinsen
dc.subjectProteins/analysisen
dc.subject*RNA-Binding Proteinsen
dc.subjectTandem Repeat Sequencesen
dc.subject*Trans-Activatorsen
dc.titleMolecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stabilityen
heal.abstractThis study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus. The aims of this population screening were to determine the prevalence of FRAXA and FRAXE syndromes among idiopathic mentally retarded (IMR) individuals, to estimate the incidence in the general population, and to investigate the molecular mechanism of instability and expansion of the FMR1-repeat. Ten FRAXA patients were identified to have either the full mutation (eight) or premutation (two) from a Hellenic population of 866 unrelated IMR individuals (611 males and 255 females, age range 3-25 years). No FRAXE patients were identified among the 611 IMR males. The incidence of FRAXA in the Hellenic population of Cyprus is estimated at 1 in 4,246 males. The repeat sites from the FMR1 and FMR2 alleles were accurately determined and showed similar distribution and frequencies with other population studies. The analysis of AGG interspersion within the FMR1-repeat in normal males revealed long, pure CGG repeats within the "gray zone" as well as variation within the 3' end showing polarity of instability. This finding supports the hypothesis that the AGG interspersion and the length of the pure repeat are major factors in determining allele stability. Analysis of FRAXAC1, DXS548, and FRAXAC2 identified particular alleles and haplotypes to have a significant association with either gray zone alleles or alleles >15 pure CGG repeats. We hypothesize that this subgroup of alleles and haplotypes are associated with long pure CGGs (>15 CGG) or 35 repeats and, having shared an evolutionary past, would have the tendency to expand.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/10331587-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/(SICI)1096-8628(19990528)84:3<184::AID-AJMG2>3.0.CO;2-B/asset/2_ftp.pdf?v=1&t=h0diqkz2&s=e47f6f02587e4b8a73e21df277ad2711bc020051-
heal.journalNameAm J Med Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate1999-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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