A New Unstable PI M Variant of a1-Antitrypsin in a Finnish Isolate
- 1 January 1980
- journal article
- research article
- Published by S. Karger AG in Human Heredity
- Vol. 30 (6) , 333-342
- https://doi.org/10.1159/000153154
Abstract
During family and population studies in a Finnish isolate (Salla), a variant of .alpha.1-antitrypsin, tentatively called PI MSAL was found. On isoelectric focusing this variant was slightly cathodal to M3. With the aid of acid starch gel electrophoresis, differentiation from M3 proved reliable, because the variant was unstable in that system. The variant also showed an increased lability at +56.degree. C and physiological pH and a decreased stability at pH 4.5 and room temperature compared to the other M subtypes. By genealogical studies it was possible to trace a common ancestor, a settler arriving to the parish around 1680, for the 3 families where the variant was found.Keywords
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