[Clinical usefulness of phenotyping of alpha 1-antitrypsin].
Analysis by isoelectric focusing of serum alpha 1-antitrypsin phenotype of 167 consecutive cases from an occupational health outpatient clinic, from university hospital departments and from private practitioners showed an excessive presence of rare gene alleles S, Z, I and anodal variants compared to their frequencies in blood donors from Lausanne or in the general Swiss population. It seems that analysis has been well grounded in most cases and helps to establish diagnosis in many respiratory diseases, in unexplained liver cirrhosis and even in aortic rupture.
Berode
M
M
Institut universitaire de médecine et d'hygiène du travail, Lausanne.
Savolainen
H
H
D000483:Alleles; D001782:Blood Donors; D006801:Humans; D007525:Isoelectric Focusing; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000145:classification / Q000235:genetics*
D000515:alpha 1-Antitrypsin
Utilité clinique du phénotypage de l'alpha 1-antitrypsine.