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dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorChristodoulou, Kyproulaen
dc.contributor.authorTjakouri, C.en
dc.contributor.authorPierides, Alkis M.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorChristodoulou, Kyproulaen
dc.creatorTjakouri, C.en
dc.creatorPierides, Alkis M.en
dc.date.accessioned2019-11-04T12:50:26Z
dc.date.available2019-11-04T12:50:26Z
dc.date.issued1996
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53019
dc.description.abstractAutosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of all cases, and the PKD2 gene on chromosome 4 accounts for the remainder. A very rare third locus is still of unknown location. We used PKD1- and PKD2-linked polymorphic markers to make the diagnosis of ADPKD in young presymptomatic members in affected families. We showed that in young members of families where clinical diagnosis cannot be definitively established, molecular linkage analysis can assist clinicians in the diagnosis. In one family a 24-year old had one cyst on the right kidneyen
dc.description.abstracthowever, molecular analysis showed clearly that he had inherited the normal haplotype. In another family, in one part of the pedigree there was co-inheritance of the disease with a PKD1-linked haplotype which originated in a non-affected 78-year-old father. Analysis with PKD2-linked markers excluded this locus. The data can be explained in one of two ways. Either this family phenotype is linked to a third locus, or the proband was the first affected person, most probably because of a novel mutation in one of her father's chromosomes. In conclusion, the combined use of markers around the PKD1 and the PKD2 locus provides more definitive answers in cases where presymptomatic diagnosis is requested by concerned families.en
dc.sourceClinical geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0029819145&partnerID=40&md5=49570c4f9b352ea65951f3f5142c88fb
dc.subjectchilden
dc.subjectAge Factorsen
dc.subjectarticleen
dc.subjecthumanen
dc.subjectAgeden
dc.subjectHumansen
dc.subjectadulten
dc.subjectcontrolled studyen
dc.subjectfemaleen
dc.subjectmajor clinical studyen
dc.subjectMiddle Ageden
dc.subjectPredictive Value of Testsen
dc.subjectpriority journalen
dc.subjectkidney polycystic diseaseen
dc.subjectmaleen
dc.subjectinheritanceen
dc.subjectphenotypeen
dc.subjecthuman cellen
dc.subjectBase Sequenceen
dc.subjectgene mutationen
dc.subjectMolecular Sequence Dataen
dc.subjectMutationen
dc.subjectmolecular biologyen
dc.subjectInfanten
dc.subjectPolymerase Chain Reactionen
dc.subjectMembrane Proteinsen
dc.subjectGenetic heterogeneityen
dc.subjectgene locusen
dc.subjectchronic kidney failureen
dc.subjectSpermatozoaen
dc.subjectPolymorphism, Geneticen
dc.subjecthaplotypeen
dc.subjectHaplotypesen
dc.subjectProteinsen
dc.subjectpedigreeen
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectcyprusen
dc.subjectTRPP Cation Channelsen
dc.subjectGenetic Markersen
dc.subjectkidney cysten
dc.subjectLinkage (Genetics)en
dc.subjectmarker geneen
dc.subjectprotein kinaseen
dc.subjectADPKDen
dc.subjectautosomal dominant disorderen
dc.subjectchromosome 16en
dc.subjectchromosome 4en
dc.subjectChromosomes, Human, Pair 16en
dc.subjectDinucleotide Repeatsen
dc.subjectdna polymorphismen
dc.subjectLinkage analysisen
dc.subjectMolecular diagnosisen
dc.subjectNovel mutationen
dc.subjectPenetranceen
dc.subjectPresymptomatic diagnosisen
dc.titlePresymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot familiesen
dc.typeinfo:eu-repo/semantics/article
dc.description.volume50
dc.description.startingpage10
dc.description.endingpage18
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :15</p>en
dc.source.abbreviationClin.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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