Deoxyribonucleic Acid (Dna) Polymorphism Of The Ax-Antitrypsin Gene In Chronic Lung Disease

Abstract

Specific gene probes were used to study restriction fragment length polymorphisms of the human a1-antitrypsin gene. A polymorphism due to loss of a recognition site for the restriction enzyme Taq I was identified in eight of 42 patients with bronchiectasis and nine of 49 patients with pulmonary emphysema, none of whom had a!-antitrypsin deficiency. Among a control group without lung disease the polymorphism was significantly less frequent, being found in only five of 101 apparently healthy blood donors. The deoxyribonucleic acid (DNA) polymorphism was also present in two of 14 unrelated patients with a i-antitrypsin deficiency, indicating a lack of association with any specific a!-antitrypsin protein phenotype. The polymorphism identified in this study may be a new marker for genetic predisposition to chronic lung disease. © 1987, British Medical Journal Publishing Group. All rights reserved.