Description of Alpha-1-Antitrypsin Deficiency Associated With PIQ0 ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Detection

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*Q0 ourém has been identified for the first time outside of Portugal. This...

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Bibliographic Details
Published in:Archivos de bronconeumología (English ed.) 2013, Vol.51 (1), p.e1-e3
Main Authors: Hernández Pérez, José María, Ramos Díaz, Ruth, Fumero García, Sergio, Pérez Pérez, José Antonio
Format: Article
Language:English
Subjects:
Internal Medicine
Pulmonary/Respiratory
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Summary: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*Q0 ourém 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*Q0 ourém 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.
ISSN:1579-2129
1579-2129
DOI:10.1016/j.arbr.2014.11.019