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Discordant diagnoses obtained by different approaches in antithrombin mutation analysis
- Source :
- Feddersen, S & Nybo, M 2014, ' Discordant diagnoses obtained by different approaches in antithrombin mutation analysis ', Clinical Biochemistry, vol. 47, no. 13-14, pp. 1337-1340 . https://doi.org/10.1016/j.clinbiochem.2014.06.013
- Publication Year :
- 2014
-
Abstract
- OBJECTIVES: In hereditary antithrombin (AT) deficiency it is important to determine the underlying mutation since the future risk of thromboembolism varies considerably between mutations. DNA investigations are in general thought of as flawless and irrevocable, but the diagnostic approach can be critical. We therefore investigated mutation results in the AT gene, SERPINC1, with two different approaches.DESIGN AND METHODS: Sixteen patients referred to the Centre for Thrombosis and Haemostasis, Odense University Hospital, with biochemical indications of AT deficiency, but with a negative denaturing high-performance liquid chromatography (DHPLC) mutation screening (routine approach until recently) were included. As an alternative mutation analysis, direct sequencing of all exons and exon-intron boundaries without pre-selection by DHPLC was performed.RESULTS: Out of sixteen patients with a negative DHPLC mutation screening, discordant results were found in ten patients (62.5%) when using direct sequencing: Eight had the Basel mutation (c.218C>T), while two had the Cambridge II mutation (c.1246G>T). For seven of the ten patients this meant an altered clinical risk-assessment for future thromboses.CONCLUSIONS: Awareness must be drawn to the possibility of differences in DNA diagnostics in general and advances when using newer techniques in particular. One should consider re-analysis of results obtained by earlier sequencing strategies, as clinically important information can be overlooked.
- Subjects :
- Adult
Male
Direct sequencing
Clinical Biochemistry
Antithrombin
Antithrombin III
DNA Mutational Analysis
General Medicine
Exons
Biology
Middle Aged
Bioinformatics
University hospital
Hematologic Diseases
Introns
Exon
Mutation (genetic algorithm)
Mutation
Mutation testing
medicine
Mutation screening
Humans
Female
Medical diagnosis
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Feddersen, S & Nybo, M 2014, ' Discordant diagnoses obtained by different approaches in antithrombin mutation analysis ', Clinical Biochemistry, vol. 47, no. 13-14, pp. 1337-1340 . https://doi.org/10.1016/j.clinbiochem.2014.06.013
- Accession number :
- edsair.doi.dedup.....3f2a100fa76417b617b620d93d15e1cd