Genetic diagnosis of α<inf>1</inf>-antitrypsin deficiency using DNA from buccal swab and serum samples

Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías

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5 Citations (Scopus)


© 2017 Walter de Gruyter GmbH, Berlin/Boston. 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. 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. 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. 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.
Original languageEnglish
Pages (from-to)1276-1283
JournalClinical Chemistry and Laboratory Medicine
Issue number9
Publication statusPublished - 1 Jan 2017


  • buccal swab sample
  • serum sample
  • α -antitrypsin deficiency 1
  • α -antitrypsin genotyping 1


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