title: Improved phenotyping of alpha 1-antichymotrypsin (ACT) by isoelectric focusing and immunoprinting: first demonstration of a deficient protein variant in the ACT system.
abstract: Genetic variation of human alpha 1-antichymotrypsin (ACT) was investigated in sera using thin-layer polyacrylamide gel isoelectric focusing (pH range 4.0-6.5) followed by immunoprinting with a monospecific anti-human ACT antibody. Sialidase-treated samples showed a microheterogeneous banding pattern which consisted of two major and several additional minor components with isoelectric points between pH 5.0 and 5.3. A population study of 200 unrelated individuals from southern Germany revealed no genetic variation. In a clinical investigation, however, we found a unique banding pattern in a female patient suffering from chronic obstructive pulmonary disease. In comparison with the monomorphic normal type the detected variant phenotype shows two additional bands that have lower intensities and are located cathodically to their major bands. Inheritance of the deficient IEF variant "ACT Bochum" was confirmed by a family study. To our knowledge this is the first genetic ACT mutant to be observed at the protein level.
authors.affiliation: Institut für Anthropologie und Humangenetik, Universität München, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Weidinger
authors.forename: W
authors.initials: W
authors.lastname: Poller
authors.forename: J P
authors.initials: JP
authors.lastname: Faber
authors.forename: F
authors.initials: F
authors.lastname: Schwarzfischer
mesh_terms: D005260:Female; D014644:Genetic Variation; D006801:Humans; D007122:Immunoelectrophoresis; D007525:Isoelectric Focusing; D008173:Lung Diseases, Obstructive / Q000097:blood / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D000514:alpha 1-Antichymotrypsin / Q000172:deficiency / Q000235:genetics* / Q000302:isolation & purification*
chemical_list: D000514:alpha 1-Antichymotrypsin