MutaGEL® Alpha-1 Antitrypsin (S/Z) PCR Assay Kit
MutaGEL Alpha-1 Antitrypsin PCR Assay manufactured in Germany by Immundiagnostik
Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL
For Research Use Only
Storage and Stability:
Store at ≤ -18°C. The MutaGEL Alpha-1 Antitrypsin PCR Assay kitreagents are stable in the unopened micro tubes until the expiration date indicated (see print on the package). Avoid longer storage at 4 – 8°C in the refrigerator: freeze back again after usage for long time storage. Before use: Spin tubes briefly before opening to collect all solutions at the bottom of the tube (contents may become dispersed during shipment).
The antiproteinase α1 antitrypsin 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.