Abstract
α1-Antitrypsin can be shown to be polymorphic by starch gel electrophoresis. At present 19 different alleles are known which are inherited in an autosomal pattern and constitute the Pi system. In one phenotype called Pi type ZZ there is a virtual deficiency of plasma α1-antitrypsin and about 230 such babies are expected in England and Wales every year.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Fagerhol M. K., Braend M. Serum prealbumin: polymorphism in man. Science. 1965 Aug 27;149(3687):986–987. doi: 10.1126/science.149.3687.986. [DOI] [PubMed] [Google Scholar]
- Gedde-Dahl T., Jr, Fagerhol M. K., Cook P. J., Noades J. Autosomal linkage between the Gm and Pi loci in man. Ann Hum Genet. 1972 Apr;35(4):393–399. [PubMed] [Google Scholar]
- Hutchison D. C. Alpha-1-antitrypsin deficiency and pulmonary emphysema: the role of proteolytic enzymes and their inhibitors. Br J Dis Chest. 1973 Jul;67(3):171–196. doi: 10.1016/0007-0971(73)90053-3. [DOI] [PubMed] [Google Scholar]