title: [Prevalence of the alpha-1 antitrypsin phenotype in Hungary].
abstract: BACKGROUND
  Alpha-1-antitrypsin deficiency is one of the most common inherited metabolic disorders. The presence of PiZ and PiS alleles alpha-1-antitrypsin deficeing are associated with. The geographical distribution of PiZ and PiS is heterogenous in Europe.
  
  
  OBJECTIVE
  The aim of the study was to investigate the frequency of alpha-1-antitrypsin alleles with isoelectric focusing in 789 healthy Hungarian citizens and to compare the results to those obtained in other European countries. The measurements were done in the Laboratory of the Institute of Experts in Forensic Medicine.
  
  
  RESULTS
  The frequency of PiM, PiZ and PiS alleles were 97.2%, 0.95% and 1.65% respectively. Therefore, the hypothetical prevalences of PiZZ and PiSS alleles are 1:10526 and 1:6060, respectively.
  
  
  CONCLUSIONS
  These results do not differ significantly from those found in the neighbouring countries. Further investigation is needed to elucidate the possible role of alpha-1-antitrypsin phenotypes in the pathogenesis of chronic liver disorders and lung emphysema.
authors.affiliation: Semmelweis Egyetem, Altalános Orvostudományi Kar, I. sz. Gyermekklinika, Budapest.
authors.forename: László
authors.initials: L
authors.lastname: Szónyi
authors.forename: Mariann
authors.initials: M
authors.lastname: Dobos
authors.forename: Barna
authors.initials: B
authors.lastname: Vásárhelyi
authors.forename: Erika
authors.initials: E
authors.lastname: Héninger
authors.forename: Zsuzsa
authors.initials: Z
authors.lastname: Váczi
mesh_terms: D000483:Alleles; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007525:Isoelectric Focusing; D010641:Phenotype; D015995:Prevalence; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin