Polymorphism of alpha-1-antitrypsin in hematological malignancies
نویسندگان
چکیده
منابع مشابه
Polymorphism of alpha-1-antitrypsin in hematological malignancies
Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and proteinase 3. Although there is a reported...
متن کاملPstI polymorphism of the alpha 1-antitrypsin-like gene.
SOURCE/DESCRIPTION: pEl was subcloned from the cosmid pcosEMBLaAT(ref .1) and contains a 9.6kb-fragment of the cosmid extending from the EcoRI-site in in-tron A to an EcoRI-site 2.5kb 3' of the «-antitrypsin gene.Vector is pBR322. POLYMORPHISM: PstI identifies a 2-allele system with alternative bands at 5.0kb (PI) and at 3.2kb (P2) for a site within the a.-antitrypsin-like gene. Several constan...
متن کاملAlpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
متن کاملDoes the PI polymorphism alone control alpha-1-antitrypsin expression?
Whether genetic factors other than the protease-inhibitor (PI) polymorphism itself contribute to variation in alpha-1-antitrypsin is of both theoretical and practical interest. We have measured the quantity of alpha-1-antitrypsin (by an immunoturbidometric assay) and its activity (by assaying elastase inhibitory capacity [EIC]) in 583 individuals from 114 twin kinships who were also typed for P...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2009
ISSN: 1678-4685,1415-4757
DOI: 10.1590/s1415-47572009005000085