Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection

Arch Bronconeumol. 2015 Jan;51(1):e1-3. doi: 10.1016/j.arbres.2014.01.011. Epub 2014 Mar 24.
[Article in English, Spanish]


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 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.

Keywords: Alelo nulo; Alpha-1-antitrypsin deficiency; Diagnóstico genético; Déficit de alfa-1-antitripsina; Genetic diagnosis; Null allele; Q0(ourém).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Base Sequence
  • Endoplasmic Reticulum-Associated Degradation
  • Female
  • Genotyping Techniques*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Phenotype
  • Sequence Analysis, DNA
  • Spain
  • alpha 1-Antitrypsin / analysis
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / genetics*


  • SERPINA1 protein, human
  • alpha 1-Antitrypsin