Keywords: Alpha-1-antitrypsin deficiency

Genetic diagnosis a b s t r a c t By analysis of a case of discrepancy between serum alpha-1-antitrypsin (AAT) level and genotype for the most common defective alleles associated with AAT deficiency (PI*S and PI*Z), a patient carrying the allele PI*Q0ourém has been identified for the first time outside of Portugal. This null allele has been implicated in cases of severe pulmonary emphysema. After developing a clinical assay for detection of c.1130insT mutation, based on fluorescent probes (HybProbe®), another 4 carriers of PI*Q0ourém allele were identified among 43 patients with abnormally low serum AAT levels based on their genotypes for PI*S and PI*Z alleles. Since 4 out of 5 cases are from the same locality (La Palma Island, Spain), it is advisable to conduct genetic analyses of affected families and, possibly, a focused population screening. © 2013 SEPAR. Published by Elsevier España, S.L.U. All rights reserved. Descripción de la deficiencia de alfa-1-antitripsina asociada al alelo PI*Q0ourém en la isla de La Palma (España) y de un método de genotipado para su detección Palabras clave: Déficit de alfa-1-antitripsin