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Updated: Jun 17, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Distribution of alpha1-antitrypsin phenotypes in Icelanders.]
Abstract:
Although the Z and S alleles causing alpha1-arantitrypsin deficiency are present at a high frequency in Northern Europeans, alpha1-arantitrypsin deficiency has never been identified in an Icelandic patient. In this study the frequency of the major alpha1-antitrypsin phenotypes M, F, S and Z, was determined in 511 unrelated Icelandic individuals by isoelectric focusing in polyacrylamide gel slabs. The frequencies of the alleles in this population were: M = 0.946; F = 0.006; S = 0.037; and Z = 0.011. The results demonstrate the presence of alpha1-arantitrypsin deficiency alleles in the Icelandic population at somewhat lower allele frequency than is found in the other Nordic populations.
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