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https://doi.org/10.15480/882.1085

Title: | Development of a mass spectrometry-based test panel for the molecular genetic analysis of CYP21A2 and its pseudogene for the diagnostics of CAH | Other Titles: | Entwicklung eines auf Massenspektrometrie basierten Testpanels für den molekulargenetischen Nachweis von Mutationen im CYP21A2-Gen und dessen Pseudogens zur Diagnostik des Adrenogenitalen Syndroms (AGS) | Language: | English | Authors: | Cantürk, Cumhur | Keywords: | MassCLEAVE-Methode; iPLEX-Methode; Gold-Standard-Methode; Dideox-Sequenzierung; diagnostisches Kit; MassCLEAVE methodology; iPLEX methodology; gold standard technology; dideox-sequencing; diagnostic kit | Issue Date: | 2012 | Examination Date: | 13-Dec-2012 | Abstract (german): | Das neuartige Konzept kombiniert MassCLEAVE- und iPLEX-Methode für die Detektion von 134 Mutationen und SNPs bei gleichzeitiger Analyse der relativen Kopienzahl des CYP21A2- zum CYP21A1P-Gen bei Anwendung der MALDI-TOF MS. Der Prototyp eines diagnostischen Kits wurde entwickelt und unter Realbedingungen mit den Ergebnissen der aktuellen Gold-Standard-Methode, der Dideox-Sequenzierung verglichen. Der Kit liefert die Ergebnisse schneller und verläßlicher. |
Abstract (english): | This novel approach combines MassCLEAVE and iPLEX methodology for targeted detection of 134 mutations and SNP-like variations simultaneously with gene copy number analysis of CYP21A2 and CYP21A1P gene applying MALDI-TOF MS. A kit prototype for diagnostic application has been developed and field-tested by comparison against the current gold standard technology; dideox-sequencing. The designed kit delivers results much faster and more reliably. |
URI: | http://tubdok.tub.tuhh.de/handle/11420/1087 | DOI: | 10.15480/882.1085 | Institute: | Bioprozess- und Biosystemtechnik V-1 | Faculty: | Verfahrenstechnik | Document Type: | Thesis | Thesis Type: | Doctoral Thesis | Advisor: | Pörtner, Ralf ![]() |
Thesis grantor: | Technische Universität Hamburg | License: | http://doku.b.tu-harburg.de/doku/lic_mit_pod.php |
Appears in Collections: | Publications with fulltext |
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Cumhur_Cantuerk_Dissertation_2013_2.pdf | 10,2 MB | Adobe PDF | View/Open![]() |
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