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]
Affiliations
- 1 Sección de Neumología, Hospital General de La Palma, Breña Alta, La Palma, Islas Canarias, España.
- 2 Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, La Laguna, Tenerife, Islas Canarias, España.
- 3 Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, La Laguna, Tenerife, Islas Canarias, España. Electronic address: joanpere@ull.edu.es.
Abstract
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).
Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Alleles
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Base Sequence
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Endoplasmic Reticulum-Associated Degradation
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Female
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Genotyping Techniques*
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Phenotype
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Sequence Analysis, DNA
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Spain
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alpha 1-Antitrypsin / analysis
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alpha 1-Antitrypsin / genetics*
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alpha 1-Antitrypsin Deficiency / genetics*
Substances
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SERPINA1 protein, human
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alpha 1-Antitrypsin