gb GENETIC A1AT

• kit requires manual preparation of reagents and samples, which are then analysed with the use of real-time PCR cycler instrument
• kit is intended for testing in Caucasian population
• kit is intended for laboratory professional use by trained healthcare professionals
• detection of PI*S and PI*Z polymorphisms serves as an aid to diagnosis of patients with suspected pathological lung and liver diseases such as chronic obstructive pulmonary disease (COPD) and cirrhosis

Clinical implications

Alpha-1-antitrypsin (A1AT) is one of the serine protease inhibitors (SERPIN) which serves as an inhibitor of neutrofile elastase in lungs. The mutations in the A1AT gene lead to changes in the protein structure and loss of function. Alpha-1-antitrypsin deficiency is associated with lung diseases such as chronic obstructive pulmonary disease (COPD). The main risk factors for COPD are smoking, dusty work or repeated respiratory infections. A1AT deficiency can cause liver disease (hepatitis, cirrhosis) in both, neonates and adults. The most frequent mutations which cause a deficiency in alpha-1-antitrypsin are PI*S and PI*Z. Mutation PI*S is caused by substitution of E264V and makes a gradual reduction in protein levels. Mutation PI*Z is caused by substitution of E342K and makes a significant A1AT level reduction in blood serum.