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Reliable phenotyping of alpha‐1‐antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient
Author(s) -
Weidinger Sebastian
Publication year - 1992
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.1150130148
Subject(s) - isoelectric focusing , pi , immobilized ph gradient , isoelectric point , chromatography , resolution (logic) , mutant , phenotype , chemistry , alpha (finance) , biology , microbiology and biotechnology , biochemistry , gene , medicine , enzyme , nursing , patient satisfaction , artificial intelligence , computer science , construct validity
Genetically determined phenotypes of the highly polymorphic human alpha 1 ‐antitrypsin were examined by hybrid isoelectric focusing in a narrow immobilized pH gradient. The chosen pH range from 4.45 to 4.75 was useful for identification and classification of the common PI M subtypes and a number of PI variants in the microheterogeneous regions of m6, m7, and m8. A high degree of resolution and an improved sharpness of PI bands was achieved with this excellent technique. It allowed the distinction of a new PI M variant, which has been designated M8, or Mingolstadt, according to the PI nomenclature. The p I difference of this mutant to the slightly cathodically located subtype M3 is approximately 0.001 pH unit. In addition, some common as well as rare phenotypes are presented.

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