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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/19696
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dc.contributor.authorBouba, I.en
dc.contributor.authorKoptides, M.en
dc.contributor.authorMean, R.en
dc.contributor.authorCosti, C. E.en
dc.contributor.authorDemetriou, K.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorPierides, A.en
dc.contributor.authorSiamopoulos, K.en
dc.contributor.authorDeltas, C. C.en
dc.date.accessioned2015-11-24T19:01:29Z-
dc.date.available2015-11-24T19:01:29Z-
dc.identifier.issn1018-4813-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19696-
dc.rightsDefault Licence-
dc.subjectAmino Acid Sequenceen
dc.subjectBase Sequenceen
dc.subjectCohort Studiesen
dc.subjectDNA/chemistry/geneticsen
dc.subjectDNA Mutational Analysisen
dc.subjectFamily Healthen
dc.subjectFemaleen
dc.subjectGenetic Variationen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectMutation, Missenseen
dc.subjectPedigreeen
dc.subjectPolycystic Kidney, Autosomal Dominant/*geneticsen
dc.subjectPolymorphism, Geneticen
dc.subjectPolymorphism, Single-Stranded Conformationalen
dc.subjectProteins/*geneticsen
dc.subjectSequence Deletionen
dc.subjectSequence Homology, Amino Aciden
dc.subjectSequence Homology, Nucleic Aciden
dc.subjectTRPP Cation Channelsen
dc.titleNovel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease familiesen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1038/sj.ejhg.5200696-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11571556-
heal.identifier.secondaryhttp://www.nature.com/ejhg/journal/v9/n9/pdf/5200696a.pdf-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2001-
heal.abstractThe autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000 individuals of the Caucasian population. The main symptom is the formation of fluid-filled cysts in the kidneys, which grow progressively in size and number with age, and leading to end-stage renal failure in approximately 50% of patients by age 60. About 85% of cases are caused by mutations in the PKD1 gene on chromosome 16p13.3, which encodes for polycystin-1, a membranous glycoprotein with 4302 amino acids and multiple domains. Mutation detection is still a challenge owing to various sequence characteristics that prevent easy PCR amplification and sequencing. Here we attempted a systematic screening of part of the duplicated region of the gene in a large cohort of 53 Hellenic families with the use of single-strand conformation polymorphism analysis of exons 16-34. Our analysis revealed eight most probably disease causing mutations, five deletions and three single amino acid substitutions, in the REJ domain of the protein. In one family, a 3-bp and an 8-bp deletion in exons 20 and 21 respectively, were co-inherited on the same PKD1 chromosome, causing disease in the mother and three sons. Interestingly we did not find any termination codon defects, so common in the unique part of the PKD1 gene. In the same cohort we identified 11 polymorphic sequence variants, four of which resulted in amino acid variations. This supports the notion that the PKD1 gene may be prone to mutagenesis, justifying the relatively high prevalence of polycystic kidney disease.en
heal.journalNameEur J Hum Geneten
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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