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American Journal of Respiratory and Critical Care Medicine Vol 166. pp. 814-817, (2002)
© 2002 American Thoracic Society

Original Articles

Rapid Screening for {alpha}1-Antitrypsin Deficiency in Patients with Chronic Obstructive Pulmonary Disease Using Dried Blood Specimens

Francisco Rodriguez, Rosendo Jardí, Xose Costa, Montserrat Cotrina, Roman Galimany, Rafael Vidal and Marc Miravitlles

Departments of Biochemistry and Pneumology, Hospital Universitario Vall d'Hebron, Barcelona, Spain

Correspondence and requests for reprints should be addressed to Rosendo Jardí, Servicio de Bioquimica, Hospital General Vall d'Hebron, Paseo Vall d'Hebron 119–129, Barcelona 08035, Spain. E-mail: rjardi{at}hg.vhebron.es

We describe two reliable methods for high-throughput screening of proteinase inhibitor (PI) S and PI Z {alpha}1-antitrypsin ({alpha}1-AT) deficiency alleles from dried blood spot (DBS) specimens using the LightCycler fluorimetric analyzer. The method was used to study 72 patients with chronic obstructive pulmonary disease. Results were confirmed with DNA sequencing. The {alpha}1-AT concentration in DBS was determined with immune nephelometry. Sixteen patients (22%) showed no PI Z or PI S mutations. Five patients (7%) had a heterozygous genotype consisting of a PI S allele and a normal allele for the Z and S positions (non-S non-Z). Twenty-five patients (35%) had a heterozygous genotype consisting of a PI Z and a non-S non-Z allele. Two (3%) had the PI SS genotype, 2 (3%) the PI SZ, and 20 (28%) the PI ZZ. All patients with two normal {alpha}1-AT alleles and 10 heterozygous carriers of one normal and one deficient allele had {alpha}1-AT levels that fell within the {alpha}1-AT DBS normal range (1.8–3.1 mg/dl). Two patients with the rare PI MMmalton- and PI MMheerlen-deficient variants showed deficient {alpha}1-AT levels; PI S and PI Z were not detected. Processing 32 samples requires only 40 minutes. This single-step, cost-effective technology is optimal for working with small amounts of DNA, as are present in DBS. The method is suitable for large-scale screening, in cases where PI type is important.

Key Words: {alpha}1-antitrypsin deficiency • proteinase inhibitor S allele • proteinase inhibitor Z allele • dried blood spot • LightCycler analyzer




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