title: [Molecular diagnostics of alpha-1-antitrypsin deficiency in clinical practice].
abstract: The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and qualitative methods. The measurement of plasma/serum AAT concentration is always the initial test performed in clinically suspected individuals. Nevertheless, only the AAT phenotype or genotype identification allows the full medical verification of the diagnosis. Among the various techniques of either AAT variant phenotyping or genotyping accepted by reference medical centers worldwide, the isoelectric focusing, real-time-PCR and restriction fragment-length polymorphism PCR (RFLP-PCR) are "considered the most effective" performed the most commonly. The AAT diagnostics in Poland still awaits for introduction into clinical routine. The aim of present review is to outline the major methods of AATD diagnosis and discuss with the special issuing of their potential benefits and disadvantages.
authors.affiliation: Samodzielna Pracownia Diagnostyki Molekularnej Instytutu Gruźlicy i Chorób Płuc, ul Płocka 26, Warsaw. r.struniawski@igichp.edu.pl
authors.forename: Radosław
authors.initials: R
authors.lastname: Struniawski
authors.forename: Adam
authors.initials: A
authors.lastname: Szpechciński
authors.forename: Joanna
authors.initials: J
authors.lastname: Chorostowska-Wynimko
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D010641:Phenotype; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length; D012680:Sensitivity and Specificity; D000515:alpha 1-Antitrypsin / Q000097:blood* / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin