Detection method: allelic discrimination

The kit is intended for detection of mutations PI*S and PI*Z in the alpha 1 antitrypsin gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).

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.

Parameters of the diagnostic kit

  • ready-to-use assay
  • sample concentration 1-100 ng/µl
  • positive and negative controls included
  • FAM and HEX channels detection
  • identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
Cat. No. Product No. of reactions Price
3251-025 gb GENETIC A1AT 25
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3251-050 gb GENETIC A1AT 50
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1 kit contains reagents to provide 25 or 50 PCR reactions (20 μl volume of each reaction).

Validated for:

ABI 7500/7500 Fast (ABI)

CFX96/96Touch (Bio-Rad)

Light Cycler 480/Cobas z480 (Roche Diagnostics)


RG 3000 (Corbett Research)

RG 6000/Q (Corbett Research/Qiagen)

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