MutaGEL® Alpha-1 Antitrypsin (S/Z) PCR Assay Kit


The Eagle Biosciences MutaGEL® Alpha-1 Antitrypsin S+Z – allows the analysis of the frequent mutations, “S” and “Z” in the human Alpha-1 antitrypsin gene. The MutaGEL® α1Antitrypsin S+Z is for research use only and is not intended for diagnostic or therapeutic procedures.

SKU: KE09014 Categories: ,

MutaGEL® Alpha-1 Antitrypsin (S/Z) PCR Assay Kit

For Research Use Only

Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL

Product manufactured in Germany by Immundiagnostik

Additional Information

Assay Background

The antiproteinase α1antitrypsin protects in general own organs (as lung and liver) from “self-digest“ by antagonistic regulation of protein-degrading enzymes from bacteria-defense and metabolism. Persons with hereditary decreased antitrypisin activity (this protein contains the highest antiproteinase concentration in the human organism) are often afflicted within part heavy (liver) diseases. This deficiency (measurable in the human serum) is caused by several different base exchanges in the α1antitrypsin gene. Most important is the homozygous constellation of “Z”-mutation (amino-acid Glu to Lys in codon 342 of exon 5) and the rarer “Zero-mutations” which are dispersed over different regions in the gene leading to no enzyme activity.

In contrary, the “S”-mutation (Glu to Val in codon 246 of exon 3) has protective properties: S-homozygotic and also compound heterozygotic with the Z-mutation (SZ) does not cause liver diseases. The enzyme product of the “S”-mutation has a short half-life and consequently a decreased serum activity. Hereditary antitrypsin deficiency with organ-defects is characterized by lung emphysema or chronic hepatitis (resp. liver cirrhosis or hepato-cellular carcinoma) and is in Europe with a frequency of 1: 2-5000 the main cause for the mentioned hereditary liver diseases by children.

Assay Principle

The Eagle Biosciences MutaGEL® α1Antitrypsin S+Z allows the diagnosis of the “S” and “Z” mutations using two different PCR techniques unified in the kit MutaGEL®α1Antitrypsin S+Z: First, allele-specific primer pairs are used for identification of “S”-mutation site second, an RFLP (restriction length polymorphism) PCR-method is used for identification of the “Z” mutation. Result-interpretation is done by subsequent detection of generated DNA products/ fragments by gel electrophoresis.


Product Manual