other

MutaGEL® ACE (24)

MG0001

1 x 96 well

MutaGEL® ACE (24)

The angiotensin converting enzyme (ACE) is the most important regulator of the renin/ angiotensin/ aldosteron system (RAAS). The enzyme converts angiotensin 1 into the physiological 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-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.

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 gelelectrophoretic methods.

Molecular Assay

Assay Kits

Molecular

1 x 96 well

ACE

ACE

200 µl

DNA

Human

RUO

Dry Ice

-20C