Related Experiment Video
Updated: Aug 11, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Alpha 1 antitrypsin deficiency in two population groups in north Italy
1Pädiatrische Gastroenterologie, Regional-Krankenhaus, Bozen, Italy.
Abstract:
We determined the PiM, PiS and PiZ gene frequencies by isoelectric focusing in 9128 newborns from two major ethnic groups, an Italian and a German one, in the Northern part of Italy. In the Italian group the PiS allele frequency is 0.032, the PiZ = 0.015, in the German one 0.015 and 0.019 respectively. Nine ZZ, 2 SS, 10 SZ, 314 MZ and 307 MS were detected. In our two population groups the PiS reflects better than other alleles a close genetic relationship between our German population and studied groups in Austria and Germany.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Type I Diabetes I: Introduction
Chronic Obstructive Pulmonary Disease II: Emphysema
Chronic Pancreatitis II: Pathophysiology

