Please use this identifier to cite or link to this item: doi:10.22028/D291-37469
Volltext verfügbar? / Dokumentlieferung
Title: Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology
Author(s): Veith, Martina
Klemmer, Andreas
Anton, Iker
El Hamss, Rachid
Rapun, Noelia
Janciauskiene, Sabina
Kotke, Viktor
Herr, Christian
Bals, Robert
Vogelmeier, Claus Franz
Greulich, Timm
Language: English
Title: International Journal of Chronic Obstructive Pulmonary Disease
Volume: 2019
Issue: 14
Pages: 2535-2542
Publisher/Platform: DOVE
Year of Publication: 2019
Free key words: SERPINA1
Luminex xMAP technology
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Purpose: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The traditional algorithm for laboratory testing of AATD involves the analysis of AAT concentrations (nephelometry), phenotyping (isoelectric focusing, IEF), and genotyping (polymerase chain reaction, PCR); in selected cases, full sequencing of the SERPINA1 gene can be undertaken. New technologies arise that may make diagnosis easier and faster. Methods: We developed and evaluated a new diagnostic algorithm based on Luminex xMAP (multi-analyte profiling) technology using Progenika A1AT Genotyping Test. In an initial learning phase, 1979 samples from individuals suspected of having AATD were examined by both, a traditional and a “new” algorithm. In a second phase, 1133 samples were analyzed with the Luminex xMAP only. Results: By introducing a Luminex xMAP based algorithm, we were able to simultaneously identify 14 mutations in SERPINA1 gene (instead of two- S and Z-by using our old algorithm). Although the quantity of IEF assays remained unchanged, the nephelometric measurements and sequencing were reduced by 79% and 63.4%, respectively. Conclusion: The new method is convenient, fast and user-friendly. The application of the Luminex xMAP technology can simplify and shorten the diagnostic workup of patients with suspected AATD.
DOI of the first publication: 10.2147/COPD.S224221
URL of the first publication:
Link to this record: urn:nbn:de:bsz:291--ds-374691
ISSN: 1178-2005
Date of registration: 30-Sep-2022
Faculty: M - Medizinische Fakultät
Department: M - Innere Medizin
Professorship: M - Prof. Dr. Robert Bals
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

Files for this record:
There are no files associated with this item.

Items in SciDok are protected by copyright, with all rights reserved, unless otherwise indicated.