High-Speed Detection of α1-Antitrypsin Deficiency Alleles Pi*S and Pi*Z on the LightCycler
| Autor: | Charalampos Aslanidis, Gerd Schmitz |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
chemistry.chemical_classification
education.field_of_study Lung biology Chemistry Population Proteolytic enzymes Molecular biology Protease inhibitor (biology) respiratory tract diseases Enzyme medicine.anatomical_structure Neutrophil elastase medicine Pi biology.protein Allele education medicine.drug |
| Zdroj: | Rapid Cycle Real-Time PCR ISBN: 9783540667360 |
| Popis: | 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]. |
| Databáze: | OpenAIRE |
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