-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and ollgonucleo,tlde probes

Alpha 1 -anlitrypsi11 alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes. K. Bruun-Petersen, G. BruwaPetersen, R. Daltl, B. Larsen, S. K~lvraa, J. Koch, L. Bolund, N. Gregersen. ABSTRACT: Alpha 1 -antltrypsln (AAT) deficiency Is a serious predisposing factor for the development of pulmonary emphysema. • Dept of Respiratory Diseases, University Hospital of Aarhus, Denmark. •• Dept of Clinical Genetics, Vejle Hospital, Vejle, Denmark. • Institute of Human Genetics, University of Aarhus, Aarhus, Denmark. " Molecular Genetic Laboratory, Department of Clinical Chemistry, University Hospital of Aarhus, Denmark. Twelve representative Danish families were studied. AAT typing was performed as a comparative study between the traditional protein typing by lsoelectrlcal focusing and the deoxyribonucleic add (DNA) technique of enzymatlc ampllflcation and subsequent typing with radioactively labelled oligonucleotide pa·obes. Correspondence: K. Bruun-Petersen Dept of Respiratory Diseases, University Hospital of Aarhus, DK-8000 Aarhus C, Denmark. On the basis of clinical and radiological signs of pulmonary emphysema, 25 patients were selected. AAT typing was performed by use of the two techniques In combination, In search for new point-mutations among the patients. Results obtained wltb the two techniques were discordant In one patient, suggesting an unknown variant.