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Case Reports
. 2015 Jan;51(1):e1-3.
doi: 10.1016/j.arbres.2014.01.011. Epub 2014 Mar 24.

Description of alpha-1-antitrypsin Deficiency Associated With PI*Q0ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Its Detection

[Article in English, Spanish]
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Description of alpha-1-antitrypsin Deficiency Associated With PI*Q0ourém Allele in La Palma Island (Spain) and a Genotyping Assay for Its Detection

[Article in English, Spanish]
José María Hernández Pérez et al. Arch Bronconeumol. .

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).

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