alpha1 Antitrypsin S+Z PCR Kit

Details for Product No. ABIN2648728,
Polymerase Chain Reaction (PCR)
Purpose MutaGEL® Alpha-1 Antitrypsin S+Z - allows the analysis of the frequent mutations, "S” and “Z” in the human Alpha-1 antitrypsin gene. 
Brand MutaGEL®
Sample Type DNA
Characteristics 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 with in part heavy (liver) diseases. This deficiency (measurable in the human serum) is caused by several different base exchanges in the α1antitrypsin gene.Most iImportant is the homozygous constellation of "Z"-mutation (amino-acid Glu to Lys in codon 342 of exon 5) and the more rare "Zero-mutations" which are dispersed over different regions in the gene leading to no enzyme activity.
n contrary, the “S”-mutation (Glu to Val in codon 246 of exon 3) has protective properties: S-homozygotie and also compound heterozygotie 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 hepatitits (resp. liver cirrhosis or hepato-cellular carcinoma) and is in Europe with a frequence of 1: 2-5000 the main cause for the mentioned hereditary liver diseases by children.
Target Name (Antigen)
Alternative Name alpha1 Antitrypsin

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, allel-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.

Sample Volume 200 μL
Restrictions For Research Use only
Storage -20 °C