A novel method for rapid genotypic identification of alpha 1-antitrypsin variants.
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 alpha1-antitrypsin S and Z variants, the most frequent variants associated with AATD. The novel method herein described is based on SexAI/Hpy99I RFLP. 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.
Ferrarotti
Ilaria
I
Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, IRCCS Policlinico S. Matteo, Pavia, Italy.
Zorzetto
Michele
M
Scabini
Roberta
R
Mazzola
Paola
P
Campo
Ilaria
I
Luisetti
Maurizio
M
D017931:DNA Primers; D004262:DNA Restriction Enzymes; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D000515:alpha 1-Antitrypsin / Q000032:analysis* / Q000235:genetics*
D017931:DNA Primers; D000515:alpha 1-Antitrypsin; D004262:DNA Restriction Enzymes