title: Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its 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*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.
authors.affiliation: Sección de Neumología, Hospital General de La Palma, Breña Alta, La Palma, Islas Canarias, España.
authors.forename: José María
authors.initials: JM
authors.lastname: Hernández Pérez
authors.affiliation: Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, Universidad de La Laguna, La Laguna, Tenerife, Islas Canarias, España.
authors.forename: Ruth
authors.initials: R
authors.lastname: Ramos Díaz
authors.affiliation: Sección de Neumología, Hospital General de La Palma, Breña Alta, La Palma, Islas Canarias, España.
authors.forename: Sergio
authors.initials: S
authors.lastname: Fumero García
authors.affiliation: 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.
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Pérez Pérez
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D060746:Endoplasmic Reticulum-Associated Degradation; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013030:Spain; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
chemical_list: C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin
keywords: Alelo nulo; Alpha-1-antitrypsin deficiency; Diagnóstico genético; Déficit de alfa-1-antitripsina; Genetic diagnosis; Null allele; Q0(ourém)