The human serum protein u,-antitrypsin is the major source of antiprotease activity found in the blood. The protein is synthesised primarily by liver cells but, to a lesser extent, by at least one other cell type. Expression of the gene has provided a paradigm for studies on transcriptional regulati
Transmission of the PiZallele for α1-antitrypsin deficiency: Population genetic considerations
✍ Scribed by R. Chakraborty; J. Constans; P. P. Majumder
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 442 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0340-6717
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Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for al-antitrypsin (alAT) variants by electrophoresis on agarose-polyacrylamide gels at pH 4.7 and isoelectric focusing (IEF). The frequencies of the Pi
## Louis a,-antitrypsin (a1 AT) deficiency is variably associated with the development of pulmonary emphysema. To gain insight into the process which begins the Z point mutation at the Protease Inhibitor (Pi) locus and results in the variable development of emphysema, three quantitative phenotypes