MutaGEL ACE PCR Assay Kit
MutaGEL ACE PCR Assay manufactured in Germany by Immundiagnostik
Size: 24 Samples
Method: PCR (allele-specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL
Alternative Names: Angiotensin-convertin Enzyme PCR Assay, Human ACE PCR Assay
For Research Use Only
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.
Storage and Stability
Storage at < -18°C. The reagents are stable in the unopened micro tubes until the expiration date indicated. Don't thaw out the content of the “ACE positive control DNA” more than twice. If necessary, make suitable aliquots. Before use: Spin tubes briefly before opening (contents may become dispersed during shipment).
The PCR results for positive control in DNA fragments of indicated length and for the samples at least one of both amplification products must be detactable. If this is not the case, the sample must be tested a second time or the complete analysis must be repeated with freshly isolated DNA. If there are no positive control DNA fragments present, the amplification was incorrect and the chosen PCR conditions have to been proven/ corrected.