Abstract
Protease inhibitor 1 (αl-antitrypsin, AT) is the main serum inhibitor of proteolytic enzymes. In AT-deficiency, enzymes such as neutrophil elastase can damage the lung tissues, leading to pulmonary emphysema. More than 90 different alleles have been identified so far for the protease inhibitor 1 (PI) gene. The three most important variants are type M (90% of population), type S (Pi*S) and type Z (Pi*Z). Homozygotes of type Z have a considerable reduction in the serum α1-antitrypsin concentration and may develop pulmonary emphysema or hepatic cirrhosis. SZ-heterozygotes are less severely affected [1–3].
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© 2001 Springer-Verlag Berlin Heidelberg
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Aslanidis, C., Schmitz, G. (2001). High-Speed Detection of α1-Antitrypsin Deficiency Alleles Pi*S and Pi*Z on the LightCycler. In: Meuer, S., Wittwer, C., Nakagawara, KI. (eds) Rapid Cycle Real-Time PCR. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59524-0_8
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DOI: https://doi.org/10.1007/978-3-642-59524-0_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-66736-0
Online ISBN: 978-3-642-59524-0
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