Obstructive Lung Disease and α1-Antitrypsin Deficiency Gene Heterozygosity

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Science  29 Aug 1969:
Vol. 165, Issue 3896, pp. 899-901
DOI: 10.1126/science.165.3896.899


The phenotypes of serum α1-antitrypsin were determined by antigenantibody crossed electrophoresis. There were five homozygotes and 25 heterozygotes for the deficiency gene found in a group of 103 patients with obstructive lung disease. The frequency of heterozygotes was 14 and 9 percent in two control groups with different mean ages of 36 and 80. There was only one heterozygote among 39 healthy males over 70 years of age. Heterozygosity may be a predisposing factor in chronic obstructive lung disease, especially in the male population.

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