PiMheerlen, alpha PiM allele resulting in very low alpha 1-antitrypsin serum levels.
A patient with pulmonary emphysema is described, who had a very low alpha 1-antitrypsin serum concentration (2% of normal). After isoelectric focusing and staining, the patient's serum revealed no visible alpha 1-antitrypsin bands. Immunofixation, following isoelectric focusing, gave a banding pattern identical to that of a normal M type. The existence of this deficient M-allele was confirmed by family studies. Low alpha 1-antitrypsin concentrations, due to the presence of the deficient allele, were coupled with low serum antitrypsin activities.
D000328:Adult; D000483:Alleles; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D007525:Isoelectric Focusing; D010375:Pedigree; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin