A novel method for rapid genotypic identification of alpha 1-antitrypsin variants

Ilaria Ferrarotti, Michele Zorzetto, Roberta Scabini, Paola Mazzola, Ilaria Campo, Maurizio Luisetti

Research output: Contribution to journalArticlepeer-review


There is worldwide growing awareness of alpha 1-antitrypsin deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard for laboratory diagnosis of AATD is thin-layer isoelectrofocusing (IEF), which is labor intensive and should be performed in reference laboratories. The aim of this study was to find an easy, fast, and cheap method for detecting α1-antitrypsin S and Z variants, the most frequent variants associated with AATD. The novel method herein described is based on SexAI/Hpy99IRFLP. We studied samples from 90 subjects enrolled in the Italian National Registry for AATD, previously typed by isoelectrofocusing. We found a complete agreement among our results, IEF, and genotypes obtained by standard methods. We concluded that this novel method combines efficiency, ease, swiftness, and low cost.

Original languageEnglish
Pages (from-to)160-163
Number of pages4
JournalDiagnostic Molecular Pathology
Issue number3
Publication statusPublished - Sep 2004


  • Alpha 1-antitrypsin
  • Genotype
  • PCR
  • RFLP

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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