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
Controls Included

---

Storage and Stability:
Store at ≤ -18°C. The MutaGEL Alpha-1 Antitrypsin PCR Assaykitreagents 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).

---

Assay Background

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.

---

Related Products

MutaGEL r-Calcitonin PCR Assay
MutaGEL MTHFR PCR Assay Kit
MutaGEL GST-P1 PCR Assay Kit

EagleBio的5α-雄甾烷-3α，17β-二醇葡糖醛酸化物是C19类固醇，缩写为3α-DiolG，5α二醇G或简称为α二醇G。它主要作为睾丸激素和二氢睾丸激素（DHT）的代谢产物生产。它主要在目标外围组织（例如皮肤）中产生，尤其是在毛囊周围。大量的3α-DiolG刺激会导致过多的头发形成，特别是在女性通常不存在头发的地方。近年来，在研究患有特发性多毛症的妇女的临床研究人员中，人们对这种类固醇的测量越来越感兴趣。已知是3α-DiolG前体的类固醇包括脱氢表雄酮（DHEA），硫酸脱氢表雄酮（DHEAS），二氢睾丸酮（DHT），雄烯二酮和睾丸激素。已显示只有3α-DiolG随多毛症增加而随治疗减少。这种相关性在多囊卵巢综合征（PCO）患者中也得到了证明。3α-DiolG的测定因此被证明是多种方式的有用指标，包括监测特发性多毛症和PCO妇女的治疗进展。此外，接受环孢霉素A治疗的糖尿病患者（无论男女）均显示3α-DiolG水平升高，这种副作用导致以前无毛的区域出现了头发。3α-DiolG的测定因此被证明是多种方式的有用指标，包括监测特发性多毛症和PCO妇女的治疗进展。此外，接受环孢霉素A治疗的糖尿病患者（无论男女）均显示3α-DiolG水平升高，这种副作用导致以前无毛的区域出现了头发。3α-DiolG的测定因此被证明是多种方式的有用指标，包括监测特发性多毛症和PCO妇女的治疗进展。此外，接受环孢霉素A治疗的糖尿病患者（无论男女）均显示3α-DiolG水平升高，这种副作用导致以前无毛的区域出现了头发。