MutaGEL® ACE PCR Assay Kit

$750.00

The Eagle Biosciences MutaGEL® ACE PCR Assay Kit allows to detect the insertion/deletion (I / D) DNA polymorphism in the intron 16 of the ACE gene coding for the human angiotensin converting enzyme. The insertion itself corresponds to an ALU repetitive sequence. The MutaGEL® ACE is for research use only and is not intended for diagnostic or therapeutic procedures.

SKU: MG0001 Categories: ,

MutaGEL® ACE PCR Assay Kit

For Research Use Only

Size: 24 Samples
Method: PCR (allele-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 angiotensin-converting enzyme (ACE) is the most important regulator of the renin/ angiotensin/aldosterone system (RAAS). The enzyme converts angiotensin 1 into the physiologically active form angiotensin 2. Latter one unfolds its vasoconstrictive effect directly into the organs (heart, kidney, vessels). The insertion/ deletion polymorphism in the ACE gene is associated immediately at the circulating ACE level. Therefore the I / D -polymorphism influences the risk for cardiovascular complications.

In contrary, the “S”-mutation (Glu to Val in codon 246 of exon 3) has protective properties: S-homozygotes and also compound heterozygotes 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 hepatocellular 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® ACE contains a set of primers which amplify the region of the gene where the insertion or deletion occurs. This leads to the following amplification pattern:

  • amplicon with 490 bp length when the alu sequence is inserted (allele I)
  • amplicon with 190 bp length when the alu sequence is deleted (allele D)

After PCR, the amplificates are subsequently detected by gel electrophoretic methods.

Manual

Product Manual