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

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$750.00
SKU:
KE09014

 Product Description

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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 Developed and Manufactured by Immundiagnostik


Intended Use
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 Eagle Biosciences MutaGEL® α1Antitrypsin S+Z is for research use only and is not intended for diagnostic or therapeutic procedures.

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, 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.

 

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 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.

In 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.

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Eagle Biosciences, Inc.
20A NW Blvd., Suite 112
Nashua, NH 03063
Email: info@eaglebio.com
Toll Free: 866-411-8023
International: +617-419-2019

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