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MutaGEL® alpha1 Antitrypsin (S/Z), PCR
KE 09014, K E09014, K E 09014
Article number:
12 Tests + 12 Tests
200 µl
DNA (e. g.whole blood,cheek swab)
PCR (allel specific + RFLP)
For research use only.

alpha 1-Antitrypsin (AAT) is a polymorphic protein with many variants collectively known as the Pi system. The most common alleles are the M, S and Z, which are co-dominantly inherited. Infants with PiZZ have approximately 16% of the normal AAT serum concentration. alpha 1-Antitrypsin deficiency (AATD) is an inborn error of metabolism which is principally associated with liver disease in children and emphysema in young adulthood. Electrophoresis has revealed that among the 3 alleles, M, Z and S controlling this disease, the ZZ and null homozygotes are worst affected and that the others are with little risk of developing emphysema. Consequently, there is a relationship between alpha1 protease inhibitor deficiency and liver disorders in children who are ZZ homozygotes. The heterozygotes MZ have an increased risk of chronic hepatitis and liver cirrhosis. API concentrate given combined with abstinence from smoking can improve lung function in ZZ, Z-null and null-null patients.

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