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dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.creatorVoskarides, Konstantinosen
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:51Z
dc.date.available2019-11-04T12:52:51Z
dc.date.issued2009
dc.identifier.issn1525-1578
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53438
dc.description.abstractSURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation detection methods such as singlestrand conformation polymorphism analysis, denaturing high-performance liquid chromatography, heteroduplex analysis, and phage resolvases. This is the first comprehensive report on the use of SURVEYOR for screening genes implicated in a spectrum of inherited renal diseases. Of the 48.2 kb screened, 44 variations were identified, accounting for one variation per 1.1 kb. The re-sequencing of multiple samples did not reveal any variation that had not been identified by SURVEYOR, attesting to its high fidelity. Additionally, we tested this enzyme against 15 known variants, 14 of which it identified, thus showing a sensitivity of 93%. We showed that the genetic heterogeneity of renal diseases can be easily overcome using this enzyme with a high degree of confidence and no bias for any specific variations. We also showed for the first time that SURVEYOR does not demonstrate any preference regarding mismatch cleavage at specific positions. Disadvantages of using SURVEYOR include enhanced exonucleolytic activity for some polymerase chain reaction products and less than 100% sensitivity. We report that SURVEYOR can be used as a mutation detection method with a high degree of confidence, offering an excellent alternative for low-budget laboratories and for the rapid manipulation of multiple genes. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology.en
dc.sourceJournal of Molecular Diagnosticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-69249086611&doi=10.2353%2fjmoldx.2009.080144&partnerID=40&md5=769a7c582ae98934411603e9f6e96c37
dc.subjectarticleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectgeneen
dc.subjectsensitivity analysisen
dc.subjectgenetic heterogeneityen
dc.subjectkidneyen
dc.subjectkidney diseaseen
dc.subjectBase Sequenceen
dc.subjectMolecular Sequence Dataen
dc.subjectpolymerase chain reactionen
dc.subjectmutationen
dc.subjectnucleotide sequenceen
dc.subjectEndonucleasesen
dc.subjectgenetic variabilityen
dc.subjectsequence analysisen
dc.subjectKidney Diseasesen
dc.subjectSensitivity and Specificityen
dc.subjectDNA Mutational Analysisen
dc.subjectgenetic screeningen
dc.subjectprotein cleavageen
dc.subjectheteroduplexen
dc.subjectNucleic Acid Heteroduplexesen
dc.subjectbase mispairingen
dc.subjectBase Pair Mismatchen
dc.subjectdiagnostic kiten
dc.subjectGenetic Testingen
dc.subjectHeteroduplex Analysisen
dc.subjectnucleaseen
dc.subjectPlant Proteinsen
dc.titleScreening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatchesen
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.2353/jmoldx.2009.080144
dc.description.volume11
dc.description.startingpage311
dc.description.endingpage318
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>Tradenames: SURVEYORen
dc.description.notesCited By :15</p>en
dc.source.abbreviationJ.Mol.Diagn.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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