The characterization of a mutation of the 3' flanking sequence of the alpha 1-antitrypsin gene commonly associated with chronic obstructive airways disease.

A restriction fragment length polymorphism (RFLP) of the 3' flanking region of the alpha 1-antitrypsin (AAT) gene, detected with the restriction enzyme TaqI, occurs in about 17% of patients with chronic obstructive airways disease (COAD). To characterize the mutation the sequence of this region of the normal AAT gene had to be determined. The sequence containing the site of the mutation was amplified by the polymerase chain reaction and the DNA was sequenced in six COAD patients. The mutation is a G to A transition and occurs in a region containing potential regulatory sequences corresponding to enhancer elements. It is as yet unclear if the mutation alters the expression of AAT.