TY - JOUR T1 - Description of Alpha-1-Antitrypsin Deficiency Associated With PI*Q0ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Detection JO - Archivos de Bronconeumología T2 - AU - Hernández Pérez,José María AU - Ramos Díaz,Ruth AU - Fumero García,Sergio AU - Pérez Pérez,José Antonio SN - 15792129 M3 - 10.1016/j.arbr.2014.11.019 DO - 10.1016/j.arbr.2014.11.019 UR - https://archbronconeumol.org/en-description-alpha-1-antitrypsin-deficiency-associated-with-articulo-S1579212914003528 AB - 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. ER -