Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples
-
Irene Belmonte
Abstract
Background:
α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD.
Methods:
Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method. In addition, 19 patients were characterized by quantification, phenotyping and genotyping using only serum samples.
Results:
The 16 buccal swab samples were correctly characterized by genotyping. Definitive results were obtained in the 19 serum samples analyzed by quantification, phenotyping and genotyping, thereby performing the complete AATD diagnostic algorithm.
Conclusions:
Buccal swab samples may be useful to expand AATD screening programs and family studies. Genotyping using DNA from serum samples permits the application of the complete diagnostic algorithm without delay. These two methods will be useful for obtaining more in depth knowledge of the real prevalence of patients with AATD.
Acknowledgments
This study was supported in part by a grant from Fundación Catalana de Pneumología (FUCAP 2015) and through funding from Grifols to the Catalan Center for Research in Alpha-1 antitrypsin deficiency of the Vall d’Hebron Research Institute in the Vall d’Hebron University Hospital. Barcelona, Spain.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Editorial
- Mass spectrometry or immunoassay: est modus in rebus
- Reviews
- The use of liquid chromatography-tandem mass spectrometry for therapeutic drug monitoring of antibiotics in cancer patients
- Tackling serum folate test in European countries within the health technology assessment paradigm: request appropriateness, assays and health outcomes
- Genetics and Molecular Diagnostics
- Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples
- General Clinical Chemistry and Laboratory Medicine
- Serum triglyceride measurements: the commutability of reference materials and the accuracy of results
- Variant peptide detection utilizing mass spectrometry: laying the foundations for proteogenomic identification and validation
- Evaluation of two fully automated immunoassay based tests for the measurement of 1α,25-dihydroxyvitamin D in human serum and comparison with LC-MS/MS
- Parallel diurnal fluctuation of testosterone, androstenedione, dehydroepiandrosterone and 17OHprogesterone as assessed in serum and saliva: validation of a novel liquid chromatography-tandem mass spectrometry method for salivary steroid profiling
- Determination of oxycodone and its major metabolites noroxycodone and oxymorphone by ultra-high-performance liquid chromatography tandem mass spectrometry in plasma and urine: application to real cases
- Identification and quantitation of phosphatidylethanols in oral fluid by liquid chromatography-tandem mass spectrometry
- Relationship between plasma and salivary melatonin and cortisol investigated by LC-MS/MS
- Paramagnetic micro-particles as a tool for rapid quantification of apixaban, dabigatran, edoxaban and rivaroxaban in human plasma by UHPLC-MS/MS
- Measurements of serum non-ceruloplasmin copper by a direct fluorescent method specific to Cu(II)
- The serum concentrations of leptin and MCP-1 independently predict low back pain duration
- Immunoassay screening in urine for synthetic cannabinoids – an evaluation of the diagnostic efficiency
- Cancer Diagnostics
- Study of kallikrein-related peptidase 6 (KLK6) and its complex with α1-antitrypsin in biological fluids
- Cardiovascular Diseases
- A candidate liquid chromatography mass spectrometry reference method for the quantification of the cardiac marker 1-32 B-type natriuretic peptide
- The natriuretic peptide MR-proANP predicts all-cause mortality and adverse outcome in community patients: a 10-year follow-up study
- CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy
- Diabetes
- Evaluating new HbA1c methods for adoption by the IFCC and NGSP reference networks using international quality targets
- Infectious Diseases
- Analytical and diagnostic performance of two automated fecal calprotectin immunoassays for detection of inflammatory bowel disease
- Letters to the Editor
- Is fasting necessary for lipid profile determinations? Some considerations from the perspective of the clinical laboratory
- Precision of nonfasting lipid profiles should focus on clinical relevance rather than necessarily obtaining the least variation
- Triglyceride concentrations should be measured after elimination of free glycerol to exclude interindividual variations due to adiposity and fasting status
- Estimation of the reference interval for serum folate measured with assays traceable to the WHO International Standard
- Implausible elevation of peripheral thyroid hormones during therapy with a protein supplement
- Interference in Na+ measurements on the Siemens RAPIDPoint® 500 after nortriptyline intoxication: a case report
- Usefulness of maternal red cell antibodies to predict hemolytic disease of the fetus and newborn and significant neonatal hyperbilirubinemia: a retrospective study
- Improvement of the Sandell-Kolthoff reaction method (ammonium persulfate digestion) for the determination of iodine in urine samples
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