Options
Development of a mass spectrometry-based test panel for the molecular genetic analysis of CYP21A2 and its pseudogene for the diagnostics of CAH
Citation Link: https://doi.org/10.15480/882.1085
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)
Publikationstyp
Doctoral Thesis
Date Issued
2012
Sprache
English
Author(s)
Advisor
Title Granting Institution
Technische Universität Hamburg
Place of Title Granting Institution
Hamburg
Examination Date
2012-12-13
Institut
TORE-DOI
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.
Subjects
MassCLEAVE-Methode
iPLEX-Methode
Gold-Standard-Methode
Dideox-Sequenzierung
diagnostisches Kit
MassCLEAVE methodology
iPLEX methodology
gold standard technology
dideox-sequencing
diagnostic kit
Loading...
Name
Cumhur_Cantuerk_Dissertation_2013_2.pdf
Size
9.96 MB
Format
Adobe PDF