Use of TP53 reference materials to validate mutations in clinical tissue specimens by single-strand conformational polymorphism analysis

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dc.authorscopusid16550908900
dc.authorscopusid7003895386
dc.authorscopusid6701764007
dc.authorscopusid7005969210
dc.authorscopusid6602111489
dc.authorscopusid58264694500
dc.authorscopusid7006776689
dc.contributor.authorSunar-Reeder B.
dc.contributor.authorAtha D.H.
dc.contributor.authorAydemir S.
dc.contributor.authorReeder D.J.
dc.contributor.authorTully L.
dc.contributor.authorKhan A.R.
dc.contributor.authorO'Connell C.D.
dc.date.accessioned2024-08-04T20:00:46Z
dc.date.available2024-08-04T20:00:46Z
dc.date.issued2004
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground: As genetic information moves from basic research laboratories in to the clinical testing environment, there is a critical need for reliable reference materials for the quality assurance of genetic tests. A panel of 12 plasmid clones containing wild-type or point mutations within exons 5-9 have been developed as reference materials for the detection of TP53 mutations. Aim: The goal of this study was to validate the reference materials in providing quality assurance for the detection of TP53 mutations in clinical specimens. Methods: We studied 33 gynecological samples, 11 apparently normal samples and 22 malignant tumors of various origins. Mutations were identified using single-strand conformational polymorphism analysis with both slab gel and capillary electrophoresis. All DNA samples were amplified with fluorescently labeled PCR primers specific for exons 5-9 for mutation detection. Results: Of the 33 patient samples tested, mutations and polymorphisms were found in six specimens in three of the five exons scanned; no mutations were found in exons 7 or 9. Both a mutation and polymorphism were found in non-malignant specimens from the control group. The mutations were confirmed by DNA sequence analysis of the regions scanned. Conclusions: Mutations and polymorphisms were detected in the clinical samples. All of the mutations were silent except for one non-conservative mutation in exon 5, codon 181. This study demonstrates the usefulness of the National Institute of Standards and Technology (NIST) TP53 reference panel in TP53 mutation detection in clinical tissue specimens.en_US
dc.identifier.doi10.2165/00066982-200408020-00007
dc.identifier.endpage130en_US
dc.identifier.issn1084-8592
dc.identifier.issue2en_US
dc.identifier.pmid15527327en_US
dc.identifier.scopus2-s2.0-5444261384en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage123en_US
dc.identifier.urihttps://doi.org/10.2165/00066982-200408020-00007
dc.identifier.urihttps://hdl.handle.net/11616/90994
dc.identifier.volume8en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofMolecular Diagnosisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDNAen_US
dc.subjectadulten_US
dc.subjectarticleen_US
dc.subjectcapillary electrophoresisen_US
dc.subjectclinical articleen_US
dc.subjectcloneen_US
dc.subjectcontrolled studyen_US
dc.subjectDNA sequenceen_US
dc.subjectexonen_US
dc.subjectfemaleen_US
dc.subjectfluorescenceen_US
dc.subjectgelen_US
dc.subjectgeneen_US
dc.subjectgene amplificationen_US
dc.subjectgene mutationen_US
dc.subjectgenetic polymorphismen_US
dc.subjecthumanen_US
dc.subjecthuman tissueen_US
dc.subjectNational Institute of Standards and Technologyen_US
dc.subjectorganizationen_US
dc.subjectplasmiden_US
dc.subjectpoint mutationen_US
dc.subjectpolymerase chain reactionen_US
dc.subjectquality controlen_US
dc.subjectreference substanceen_US
dc.subjectreference valueen_US
dc.subjectsequence analysisen_US
dc.subjectsingle strand conformation polymorphismen_US
dc.subjecttissueen_US
dc.subjecttp53 geneen_US
dc.subjectvalidation processen_US
dc.subjectAdolescenten_US
dc.subjectAdulten_US
dc.subjectBase Sequenceen_US
dc.subjectDNA Mutational Analysisen_US
dc.subjectDNA, Neoplasmen_US
dc.subjectElectrophoresis, Capillaryen_US
dc.subjectExonsen_US
dc.subjectFemaleen_US
dc.subjectGenes, p53en_US
dc.subjectHumansen_US
dc.subjectMiddle Ageden_US
dc.subjectMolecular Sequence Dataen_US
dc.subjectMutationen_US
dc.subjectNeoplasmsen_US
dc.subjectPolymerase Chain Reactionen_US
dc.subjectPolymorphism, Single-Stranded Conformationalen_US
dc.subjectReference Standardsen_US
dc.subjectSequence Analysis, DNAen_US
dc.titleUse of TP53 reference materials to validate mutations in clinical tissue specimens by single-strand conformational polymorphism analysisen_US
dc.typeArticleen_US

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