الفهرس 
Alpha 1- Antitrypsin DeficiencyOnly 14 pages are availabe for public view
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Abstract
This study was carried out in the Laboratory of the Molecular Biology Department at the Genetic Engineering and Biotechnology Research Institute, University of Sadat city, Egypt during the period from 2008-2014.
The protein alpha-1-antitrypsin (AAT) was first identified in 1963 by Laurell and Eriksson who characterized its association with pulmonary emphysema. The molecular weight of AAT protein is a 52 kDa molecule which primarily produced in hepatocytes and released into the blood circulation by the liver (Brantly et al., 1988). The protein is present in all body tissues but appears to have its primary physiological function in the lungs, in which protects the fragile alveolar tissue from proteolytic damage by enzymes like neutrophil elastase (Gadek et al., 1981). The AAT gene position has been mapped on chromosome 14q31–32.3 (Schroeder et al., 1985; Billingsley et al., 1993). The two most preponderant deficiency variants are PiS (Byth et al., 1994) and PiZ (Jeppsson, 1976). In PiZZ homozygotes, AAT concentration is highly decreased, approximately 12–15% of the level observed in M phenotype subjects (Wu et al., 1994). AAT deficiency (AATD) is a common genetic disease characterized by clinical manifestations in lung (Lomas and Parfrey 2004). Both asthma and chronic obstructive pulmonary disease (COPD) are characterized by airflow limitation, airway remodeling and chronic inflammation (Barnes, 2008, Gelb et al., 2008).