Abstract

Mutations in the α₁-antichymotrypsin gene have been described which result in reduced levels of α₁-antichymotrypsin in the serum. Previous studies have suggested that two of these mutations (Pro²²⁷→Ala and Leu⁵⁵→Pro) predispose to chronic obstructive pulmonary disease (COPD). We have investigated the prevalence of these mutations in 168 COPD patients and 61 controls without airflow obstruction. The prevalence of the Pro²²⁷→Ala mutation was 0.9% and it was not associated with impaired lung function. None of the subjects had the Leu ⁵⁵→Pro mutation.