Alpha1-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha1-Antitrypsin Genes
- 20 March 1986
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 314 (12) , 762-766
- https://doi.org/10.1056/nejm198603203141207
Abstract
EMPHYSEMA is a chronic disorder of the lower respiratory tract characterized by enlargement of the air space distal to the terminal bronchioles resulting from destruction of the alveolar walls.1 , 2 In the United States and Europe, approximately 2 percent of cases of emphysema are associated with a hereditary deficiency of α1-antitrypsin,3 4 5 6 a 52-kd glycoprotein produced by hepatocytes and, to a lesser extent, mononuclear phagocytes.7 8 9 10 11 12 13 14 15 16 17 The single gene coding for α1-antitrypsin is contained within a 10-kb segment of DNA composed of five exons on chromosome 14.18–20 The two parental alleles are codominantly expressed, and the α1-antitrypsin . . .Keywords
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